rs80356885
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs80356885(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43074482 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356885 |
dbSNP (classic) | rs80356885 |
ClinGen | rs80356885 |
ebi | rs80356885 |
HLI | rs80356885 |
Exac | rs80356885 |
Gnomad | rs80356885 |
Varsome | rs80356885 |
LitVar | rs80356885 |
Map | rs80356885 |
PheGenI | rs80356885 |
Biobank | rs80356885 |
1000 genomes | rs80356885 |
hgdp | rs80356885 |
ensembl | rs80356885 |
geneview | rs80356885 |
scholar | rs80356885 |
rs80356885 | |
pharmgkb | rs80356885 |
gwascentral | rs80356885 |
openSNP | rs80356885 |
23andMe | rs80356885 |
SNPshot | rs80356885 |
SNPdbe | rs80356885 |
MSV3d | rs80356885 |
GWAS Ctlg | rs80356885 |
Max Magnitude | 6 |
rs80356885, also known as W1508X, c.4524G>A and p.Trp1508Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80356885(A;A) |
Alt | rs80356885(A;A) |
Reference | Rs80356885(G;G) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41226499C>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000048586.5, RCV000077575.6, RCV000129129.3, RCV000236102.2, |