chr17:7578461:C>T Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,461-7,578,461 |
hg38 | chr17:7,675,143-7,675,143 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126116.1:c.73G>A | NP_001119588.1:p.Val25Ile |
NM_001276698.1:c.73G>A | NP_001263627.1:p.Val25Ile | |
NM_001126113.2:c.469G>A | NP_001119585.1:p.Val157Ile |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
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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descending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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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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2023-08-29 | criteria provided, conflicting interpretations | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-10-21 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2024-02-05 | criteria provided, conflicting interpretations | Li-Fraumeni syndrome |
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Detail |
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2020-08-26 | reviewed by expert panel | Li-Fraumeni syndrome 1 |
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Detail |
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2022-01-17 | criteria provided, single submitter | not specified |
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Detail |
CIViC
[No Data.]
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 |
---|---|---|
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND not specified | 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
- hg19
- Position
- chr17:7,578,461-7,578,461
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121198
- Allele Counts in All Race (ExAC)
- 7
- Heterozygous Counts in All Race (ExAC)
- 7
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.775672865888876E-5
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