rs80356953
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 |
(C;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80356953(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43074519 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356953 |
dbSNP (classic) | rs80356953 |
ClinGen | rs80356953 |
ebi | rs80356953 |
HLI | rs80356953 |
Exac | rs80356953 |
Gnomad | rs80356953 |
Varsome | rs80356953 |
LitVar | rs80356953 |
Map | rs80356953 |
PheGenI | rs80356953 |
Biobank | rs80356953 |
1000 genomes | rs80356953 |
hgdp | rs80356953 |
ensembl | rs80356953 |
geneview | rs80356953 |
scholar | rs80356953 |
rs80356953 | |
pharmgkb | rs80356953 |
gwascentral | rs80356953 |
openSNP | rs80356953 |
23andMe | rs80356953 |
SNPshot | rs80356953 |
SNPdbe | rs80356953 |
MSV3d | rs80356953 |
GWAS Ctlg | rs80356953 |
Max Magnitude | 6 |
rs80356953, also known as S1496X, c.4487C>G and p.Ser1496Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80356953(A;A) rs80356953(G;G) |
Alt | rs80356953(A;A) rs80356953(G;G) |
Reference | Rs80356953(C;C) |
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.41226536G>C; NC_000017.10:g.41226536G>T |
CLNSRC | ClinVar |
CLNACC | RCV000048580.2, RCV000112348.2, RCV000048579.2, RCV000112347.2, |