chr17:7577120:C>A Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,120-7,577,120 |
hg38 | chr17:7,673,802-7,673,802 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126116.1:c.422G>T | NP_001119588.1:p.Arg141Leu |
NM_001276698.1:c.422G>T | NP_001263627.1:p.Arg141Leu | |
NM_000546.5:c.818G>T | NP_000537.3:p.Arg273Leu |
Summary
MGeND
Clinical significance |
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Variant entry | 54 |
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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middle third of oesophagus |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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lower third of oesophagus |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Acute myeloblastic leukaemia |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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Malignant tumor of unknown origin (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Serous surface papillary carcinoma (morphologic abnormality)__Primary malignant neoplasm of uterus (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Squamous cell carcinoma of lung (disorder) |
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MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
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Others (Prostatic duct adenocarcinoma) |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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Glioma |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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middle third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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lower third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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middle third of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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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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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 | Neoplasm of brain |
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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 | B-cell chronic lymphocytic leukemia |
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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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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | medulloblastoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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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 | Malignant neoplasm of body of uterus |
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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 | acute myeloid leukemia |
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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 | hepatocellular carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Small cell lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | multiple myeloma |
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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 | Breast 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 | ovarian serous cystadenocarcinoma |
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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 | glioblastoma |
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Detail |
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2017-11-01 | no assertion criteria provided | Metastatic pancreatic neuroendocrine tumours |
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Detail |
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2023-01-12 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2023-09-10 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
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Detail |
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2022-12-23 | criteria provided, single submitter | not provided |
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Detail |
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2022-06-18 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
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2022-05-24 | criteria provided, single submitter | Li-Fraumeni syndrome 1,Bone marrow failure syndrome 5,bone osteosarcoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7 |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
ovarian cancer | Cisplatin,Carboplatin | C |
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Resistance | Somatic | 11595686 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | Li-Fraumeni syndrome 1 | The consensus coding sequences of human breast and colorectal cancers. | UNIPROT | 16959974 | Detail |
0.441 | Li-Fraumeni syndrome 1 | NA | CLINVAR | Detail | |
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.007 | Lichen Sclerosus et Atrophicus | In matched samples, immunohistochemistry evaluation of p53 protein expression re... | BeFree | 17554370 | Detail |
0.067 | colon carcinoma | To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p5... | BeFree | 18701504 | Detail |
<0.001 | Glioma | Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R2... | BeFree | 18202704 | Detail |
<0.001 | Anaplastic thyroid carcinoma | Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R27... | BeFree | 15899946 | Detail |
0.059 | Malignant tumor of colon | To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p5... | BeFree | 18701504 | Detail |
0.382 | osteosarcoma | Some of the genetic changes identified were in tumor suppressor genes previously... | BeFree | 22006429 | Detail |
0.134 | osteosarcoma | Some of the genetic changes identified were in tumor suppressor genes previously... | BeFree | 22006429 | Detail |
0.010 | Osteosarcoma of bone | Some of the genetic changes identified were in tumor suppressor genes previously... | BeFree | 22006429 | Detail |
0.031 | Osteosarcoma of bone | Some of the genetic changes identified were in tumor suppressor genes previously... | BeFree | 22006429 | Detail |
0.080 | Carcinogenesis | This study has investigated the impact of three specific dominant-negative p53 m... | BeFree | 16723121 | Detail |
0.132 | glioblastoma | The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mu... | BeFree | 24399651 | Detail |
0.012 | rhabdomyosarcoma | Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the age... | BeFree | 21484931 | Detail |
0.003 | Malignant neoplasm of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
<0.001 | Non-small cell lung carcinoma | The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up... | BeFree | 21621504 | Detail |
0.031 | Osteosarcoma of bone | On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Sa... | BeFree | 17363498 | Detail |
0.121 | endometrial carcinoma | To investigate the DN effect on tumor migration and invasion, we generated cells... | BeFree | 17636407 | Detail |
0.382 | osteosarcoma | On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Sa... | BeFree | 17363498 | Detail |
0.219 | Non-small cell lung carcinoma | The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up... | BeFree | 21621504 | Detail |
0.261 | adrenocortical carcinoma | Although codon 273 is a known hotspot region for p53 mutation, the patient's mut... | BeFree | 16096528 | Detail |
0.005 | Malignant neoplasm of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
0.369 | Li-Fraumeni syndrome | Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the age... | BeFree | 21484931 | Detail |
0.160 | Malignant neoplasm of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
0.004 | Carcinoma of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
0.002 | Carcinoma of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
0.011 | Malignant neoplasm of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
0.128 | Anaplastic thyroid carcinoma | NA | CLINVAR | Detail | |
0.003 | Carcinoma of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
0.017 | Malignant neoplasm of endometrium | To investigate the DN effect on tumor migration and invasion, we generated cells... | BeFree | 17636407 | Detail |
0.323 | Neoplasm Metastasis | Taken together, these results suggest that transdominance of R273H mutant over w... | BeFree | 17636407 | Detail |
0.017 | uterine corpus cancer | To investigate the DN effect on tumor migration and invasion, we generated cells... | BeFree | 17636407 | Detail |
0.080 | Carcinoma of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
0.261 | Skin Neoplasms | Here, we show, using conditional mouse technology, that epithelium-specific hete... | BeFree | 17510390 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Ovarian cancer patients with TP53 missense mutations were refractory to platinum-based chemotherapy ... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Medulloblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Adrenal cortex carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Malignant melanoma of skin | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Brainstem glioma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Acute myeloid leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Small cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Multiple myeloma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Metastatic pancreatic neuroendocrine tumours | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND multiple conditions | ClinVar | Detail |
The consensus coding sequences of human breast and colorectal cancers. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In matched samples, immunohistochemistry evaluation of p53 protein expression revealed the presence ... | DisGeNET | Detail |
To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p53 is inducibly knock... | DisGeNET | Detail |
Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R273H) in the p53 null... | DisGeNET | Detail |
Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R273H) mutants, strongl... | DisGeNET | Detail |
To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p53 is inducibly knock... | DisGeNET | Detail |
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter... | DisGeNET | Detail |
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter... | DisGeNET | Detail |
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter... | DisGeNET | Detail |
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter... | DisGeNET | Detail |
This study has investigated the impact of three specific dominant-negative p53 mutants (F134L, M237L... | DisGeNET | Detail |
The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. | DisGeNET | Detail |
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 2... | DisGeNET | Detail |
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s... | DisGeNET | Detail |
On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regu... | DisGeNET | Detail |
To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... | DisGeNET | Detail |
On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regu... | DisGeNET | Detail |
The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s... | DisGeNET | Detail |
Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has no... | DisGeNET | Detail |
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 2... | DisGeNET | Detail |
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... | DisGeNET | Detail |
Taken together, these results suggest that transdominance of R273H mutant over wt p53 rather than a ... | DisGeNET | Detail |
To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... | DisGeNET | Detail |
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
Here, we show, using conditional mouse technology, that epithelium-specific heterozygous expression ... | 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
- rs28934576 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,120-7,577,120
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8072
- 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)
- 114148
- 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)
- 8.760556470547009E-6
- Variant (CIViC) (CIViC Variant)
- R273L
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/918
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