chr17:7674193:A>C Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,511-7,577,511 View the variant detail on this assembly version. |
hg38 | chr17:7,674,193-7,674,193 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.770T>G | NP_000537.3:p.Leu257Arg |
NM_001126112.2:c.770T>G | NP_001119584.1:p.Leu257Arg | |
NM_001276760.1:c.770T>G | NP_001263689.1:p.Leu257Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-12-11 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-07-05 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.126 | Li-fraumeni-like syndrome | NA | CLINVAR | Detail | |
0.441 | Li-Fraumeni syndrome 1 | Database of mutations in the p53 and APC tumor suppressor genes designed to faci... | UNIPROT | 8829653 | Detail |
0.441 | Li-Fraumeni syndrome 1 | p53 mutations in human cancers. | UNIPROT | 1905840 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) AND Li-Fraumeni syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epi... | DisGeNET | Detail |
p53 mutations in human cancers. | 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
- rs28934577 dbSNP
- Genome
- hg38
- Position
- chr17:7,674,193-7,674,193
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
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