chr17:7577548:C>T Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,548-7,577,548 |
hg38 | chr17:7,674,230-7,674,230 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126116.1:c.337G>A | NP_001119588.1:p.Gly113Ser |
NM_001276698.1:c.337G>A | NP_001263627.1:p.Gly113Ser | |
NM_000546.5:c.733G>A | NP_000537.3:p.Gly245Ser |
Summary
MGeND
Clinical significance |
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Variant entry | 157 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2020/04/20 | bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | middle third of oesophagus |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | lower third of oesophagus |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | fundus of stomach |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | pyloric antrum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | caecum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | appendix |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | ascending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | transverse colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | descending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | sigmoid colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | colon, unspecified |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | malignant neoplasm of rectosigmoid junction |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | malignant neoplasm of rectum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2019/07/19 | retroperitoneum |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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2018/05/15 | stomach neoplasms |
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MGS000017
(TMGS000034) |
Kohei Miyazono | Tokyo University | |||
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2018/01/13 | breast, unspecified |
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MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
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Ovarian serous tumour |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Carcinoma of colon (disorder) |
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MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
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Others |
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MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
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Colorectal |
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MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
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Bladder cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
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Endometrial cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
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2021/03/19 | control |
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MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
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2020/04/20 | fundus of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | pyloric antrum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | duodenum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | caecum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | appendix |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | ascending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | transverse colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | descending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | malignant neoplasm of rectosigmoid junction |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | body of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | ill-defined sites within the digestive system |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | upper third of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | middle third of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | lower third of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | oesophagus, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | fundus of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | body of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | pyloric antrum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | stomach, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | small intestine, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | caecum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | transverse colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | descending colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | colon, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | malignant neoplasm of rectosigmoid junction |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | malignant neoplasm of rectum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | head of pancreas |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | ill-defined sites within the digestive system |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1995-01-01 | no assertion criteria provided | Li-fraumeni-like syndrome |
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Detail |
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2024-03-07 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-07-04 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2014-06-01 | no assertion criteria provided | adenocarcinoma |
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Detail |
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2022-04-27 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-08-28 | reviewed by expert panel | Li-Fraumeni syndrome |
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Detail |
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2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
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Detail |
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2016-05-31 | no assertion criteria provided | glioblastoma |
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Detail |
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2015-07-14 | no assertion criteria provided | Neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of brain |
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Detail |
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2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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no assertion criteria provided | atypical teratoid rhabdoid tumor |
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Detail | |
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no assertion criteria provided | Astrocytoma, anaplastic |
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Detail | |
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2021-03-19 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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criteria provided, single submitter | colorectal cancer |
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Detail | |
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no assertion criteria provided | Familial ovarian cancer |
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Detail | |
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2021-09-10 | no assertion criteria provided | breast carcinoma |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-16 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 |
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Detail |
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2021-07-01 | no assertion criteria provided | Gastric cancer |
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Detail |
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no assertion criteria provided | Malignant tumor of urinary bladder |
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Detail | |
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2023-10-25 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
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2023-12-06 | criteria provided, single submitter | TP53-related disorder |
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Detail |
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2023-02-27 | criteria provided, single submitter | multiple acyl-CoA dehydrogenase deficiency |
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Detail |
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2023-02-27 | criteria provided, single submitter | xeroderma pigmentosum |
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Detail |
CIViC
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | Li-Fraumeni syndrome 1 | NA | CLINVAR | Detail | |
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail | |
0.126 | Li-fraumeni-like syndrome | NA | CLINVAR | Detail | |
0.382 | osteosarcoma | NA | CLINVAR | Detail | |
0.441 | Li-Fraumeni syndrome 1 | Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. | UNIPROT | 8829627 | Detail |
0.511 | adenocarcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Li-fraumeni-like syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Brainstem glioma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Atypical teratoid rhabdoid tumor | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Astrocytoma, anaplastic | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Colorectal cancer | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Familial ovarian cancer | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Breast carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Gastric cancer | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Malignant tumor of urinary bladder | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND TP53-related disorder | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Multiple acyl-CoA dehydrogenase deficiency | ClinVar | Detail |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Xeroderma pigmentosum | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs28934575 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,548-7,577,548
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121380
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.238589553468446E-6
- Variant (CIViC) (CIViC Variant)
- G245S
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/879
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