chr17:7675124:T>C Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,442-7,578,442 View the variant detail on this assembly version. |
hg38 | chr17:7,675,124-7,675,124 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001276696.1:c.371A>G | NP_001263625.1:p.Tyr124Cys |
NM_000546.5:c.488A>G | NP_000537.3:p.Tyr163Cys | |
NM_001126112.2:c.488A>G | NP_001119584.1:p.Tyr163Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 4 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2017/12/14 | lung adenocarcinoma |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
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2018/04/12 | Ovarian cancer |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
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2018/04/12 | ovarian cancer (dissemination) |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-03-02 | criteria provided, single submitter | not provided |
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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 | hepatocellular carcinoma |
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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 | Small cell lung carcinoma |
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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 | pancreatic 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 | Malignant melanoma of skin |
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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 | Carcinoma of esophagus |
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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 | 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 | Squamous cell carcinoma of the head and neck |
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Detail |
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2021-02-09 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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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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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2024-02-14 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | 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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Small cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Malignant melanoma of skin | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Brainstem glioma | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NA | 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 |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs148924904 dbSNP
- Genome
- hg38
- Position
- chr17:7,675,124-7,675,124
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
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