rs80357440
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs80357440(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43091638 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357440 |
dbSNP (classic) | rs80357440 |
ClinGen | rs80357440 |
ebi | rs80357440 |
HLI | rs80357440 |
Exac | rs80357440 |
Gnomad | rs80357440 |
Varsome | rs80357440 |
LitVar | rs80357440 |
Map | rs80357440 |
PheGenI | rs80357440 |
Biobank | rs80357440 |
1000 genomes | rs80357440 |
hgdp | rs80357440 |
ensembl | rs80357440 |
geneview | rs80357440 |
scholar | rs80357440 |
rs80357440 | |
pharmgkb | rs80357440 |
gwascentral | rs80357440 |
openSNP | rs80357440 |
23andMe | rs80357440 |
SNPshot | rs80357440 |
SNPdbe | rs80357440 |
MSV3d | rs80357440 |
GWAS Ctlg | rs80357440 |
Max Magnitude | 6 |
rs80357440, also known as S1298X, c.3893C>A and p.Ser1298Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i5010138
ClinVar | |
---|---|
Risk | rs80357440(A;A) rs80357440(G;G) rs80357440(T;T) |
Alt | rs80357440(A;A) rs80357440(G;G) rs80357440(T;T) |
Reference | Rs80357440(C;C) |
Significance | Pathogenic |
Disease | not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41243655G>A; NC_000017.10:g.41243655G>C; NC_000017.10:g.41243655G>T |
CLNSRC | ClinVar |
CLNACC | RCV000235595.3, RCV000228438.1, RCV000048369.4, RCV000077557.5, RCV000162869.2, RCV000212178.1, |