chr17:7577547:C>A Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,547-7,577,547 |
hg38 | chr17:7,674,229-7,674,229 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.734G>T | NP_000537.3:p.Gly245Val |
NM_001126112.2:c.734G>T | NP_001119584.1:p.Gly245Val | |
NM_001276760.1:c.734G>T | NP_001263689.1:p.Gly245Val |
Summary
MGeND
Clinical significance |
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Variant entry | 40 |
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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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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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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transverse colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Bone sarcoma |
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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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transverse colon |
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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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cervical part of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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pyloric antrum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ampulla of vater |
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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 | Squamous cell carcinoma of the head and neck |
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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 | ovarian serous cystadenocarcinoma |
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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 | glioblastoma |
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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 | uterine carcinosarcoma |
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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 | Carcinoma of esophagus |
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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 | pancreatic adenocarcinoma |
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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 | lung 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 | Squamous cell lung carcinoma |
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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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2021-07-16 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
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2023-03-21 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-06-02 | 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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2022-02-08 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
CIViC
[No Data.]
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 | |
<0.001 | Primary myelofibrosis | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... | BeFree | 22052707 | Detail |
<0.001 | Primary myelofibrosis | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... | BeFree | 22052707 | Detail |
<0.001 | Primary myelofibrosis | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... | BeFree | 22052707 | Detail |
<0.001 | Primary myelofibrosis | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... | BeFree | 22052707 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Brainstem glioma | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.734G>T (p.Gly245Val) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... | DisGeNET | Detail |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... | DisGeNET | Detail |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... | DisGeNET | Detail |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... | 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
- rs121912656 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,547-7,577,547
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.155802126675913E-4
- Chromosome Counts in All Race (ExAC)
- 121378
- 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)
- 8.2387253044209E-6
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