rs80357148
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80357148(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43076492 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357148 |
dbSNP (classic) | rs80357148 |
ClinGen | rs80357148 |
ebi | rs80357148 |
HLI | rs80357148 |
Exac | rs80357148 |
Gnomad | rs80357148 |
Varsome | rs80357148 |
LitVar | rs80357148 |
Map | rs80357148 |
PheGenI | rs80357148 |
Biobank | rs80357148 |
1000 genomes | rs80357148 |
hgdp | rs80357148 |
ensembl | rs80357148 |
geneview | rs80357148 |
scholar | rs80357148 |
rs80357148 | |
pharmgkb | rs80357148 |
gwascentral | rs80357148 |
openSNP | rs80357148 |
23andMe | rs80357148 |
SNPshot | rs80357148 |
SNPdbe | rs80357148 |
MSV3d | rs80357148 |
GWAS Ctlg | rs80357148 |
Max Magnitude | 6 |
rs80357148, also known as E1494X, c.4480G>T and p.Glu1494Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357148(A;A) rs80357148(T;T) |
Alt | rs80357148(A;A) rs80357148(T;T) |
Reference | Rs80357148(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41228509C>A; NC_000017.10:g.41228509C>T |
CLNSRC | ClinVar |
CLNACC | RCV000048569.2, RCV000112338.3, RCV000048568.3, RCV000112337.1, |