rs80357346
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 3 | Likely miscall if from Ancestry data; otherwise, BRCA1 mutation |
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094239 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357346 |
dbSNP (classic) | rs80357346 |
ClinGen | rs80357346 |
ebi | rs80357346 |
HLI | rs80357346 |
Exac | rs80357346 |
Gnomad | rs80357346 |
Varsome | rs80357346 |
LitVar | rs80357346 |
Map | rs80357346 |
PheGenI | rs80357346 |
Biobank | rs80357346 |
1000 genomes | rs80357346 |
hgdp | rs80357346 |
ensembl | rs80357346 |
geneview | rs80357346 |
scholar | rs80357346 |
rs80357346 | |
pharmgkb | rs80357346 |
gwascentral | rs80357346 |
openSNP | rs80357346 |
23andMe | rs80357346 |
SNPshot | rs80357346 |
SNPdbe | rs80357346 |
MSV3d | rs80357346 |
GWAS Ctlg | rs80357346 |
Max Magnitude | 6 |
rs80357346, also known as L431X, c.1292T>G and p.Leu431Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | Rs80357346(G;G) |
Alt | Rs80357346(G;G) |
Reference | Rs80357346(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246256A>C |
CLNSRC | ClinVar |
CLNACC | RCV000047405.2, RCV000111583.3, |