rs28934875
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (C;G) | 7 | Li-Fraumeni Syndrome (predicted) |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 7675200 |
| Gene | TP53 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28934875 |
| dbSNP (classic) | rs28934875 |
| ClinGen | rs28934875 |
| ebi | rs28934875 |
| HLI | rs28934875 |
| Exac | rs28934875 |
| Gnomad | rs28934875 |
| Varsome | rs28934875 |
| LitVar | rs28934875 |
| Map | rs28934875 |
| PheGenI | rs28934875 |
| Biobank | rs28934875 |
| 1000 genomes | rs28934875 |
| hgdp | rs28934875 |
| ensembl | rs28934875 |
| geneview | rs28934875 |
| scholar | rs28934875 |
| rs28934875 | |
| pharmgkb | rs28934875 |
| gwascentral | rs28934875 |
| openSNP | rs28934875 |
| 23andMe | rs28934875 |
| SNPshot | rs28934875 |
| SNPdbe | rs28934875 |
| MSV3d | rs28934875 |
| GWAS Ctlg | rs28934875 |
| Max Magnitude | 7 |
rs28934875, also known as Ala138Pro or A138P, is a SNP in the p53 TP53 tumor suppressor gene.
The rare rs28934875(C) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 9569035
]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]
| ClinVar | |
|---|---|
| Risk | Rs28934875(C;C) |
| Alt | Rs28934875(C;C) |
| Reference | Rs28934875(G;G) |
| Significance | Pathogenic |
| Disease | Li-Fraumeni syndrome 1 Li-Fraumeni syndrome |
| Variation | info |
| Gene | TP53 |
| CLNDBN | Li-Fraumeni syndrome 1 Li-Fraumeni syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.7578518C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013175.24, RCV000461233.1, |
