chr17:7675143:C>A Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,461-7,578,461 View the variant detail on this assembly version. |
hg38 | chr17:7,675,143-7,675,143 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.469G>T | NP_000537.3:p.Val157Phe |
NM_001126112.2:c.469G>T | NP_001119584.1:p.Val157Phe | |
NM_001276760.1:c.469G>T | NP_001263689.1:p.Val157Phe |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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2017/03/08 | carcinoma, non-small-cell lung |
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MGS000014
(TMGS000028) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1991-04-04 | no assertion criteria provided | hepatocellular carcinoma |
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Detail |
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2021-09-08 | 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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2023-11-14 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
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2024-02-14 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2022-06-06 | criteria provided, single submitter | squamous cell carcinoma |
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Detail |
CIViC
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.382 | osteosarcoma | Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,... | BeFree | 16778209 | Detail |
0.031 | Osteosarcoma of bone | Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,... | BeFree | 16778209 | Detail |
0.511 | liver carcinoma | NA | CLINVAR | Detail | |
0.003 | squamous cell carcinoma | Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of... | BeFree | 17294448 | 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.469G>T (p.Val157Phe) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Squamous cell carcinoma | ClinVar | Detail |
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es... | DisGeNET | Detail |
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of the head and neck (... | 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
- rs121912654 dbSNP
- Genome
- hg38
- Position
- chr17:7,675,143-7,675,143
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- V157F
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1092
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