rs80357248
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 rs80357248(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43074385 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357248 |
dbSNP (classic) | rs80357248 |
ClinGen | rs80357248 |
ebi | rs80357248 |
HLI | rs80357248 |
Exac | rs80357248 |
Gnomad | rs80357248 |
Varsome | rs80357248 |
LitVar | rs80357248 |
Map | rs80357248 |
PheGenI | rs80357248 |
Biobank | rs80357248 |
1000 genomes | rs80357248 |
hgdp | rs80357248 |
ensembl | rs80357248 |
geneview | rs80357248 |
scholar | rs80357248 |
rs80357248 | |
pharmgkb | rs80357248 |
gwascentral | rs80357248 |
openSNP | rs80357248 |
23andMe | rs80357248 |
SNPshot | rs80357248 |
SNPdbe | rs80357248 |
MSV3d | rs80357248 |
GWAS Ctlg | rs80357248 |
Max Magnitude | 6 |
rs80357248, also known as E1541X, c.4621G>T and p.Glu1541Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357248(T;T) |
Alt | rs80357248(T;T) |
Reference | Rs80357248(G;G) |
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.41226402C>A |
CLNSRC | ClinVar |
CLNACC | RCV000048608.2, RCV000112365.2, |