rs80357872
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs80357872(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43099808 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357872 |
dbSNP (classic) | rs80357872 |
ClinGen | rs80357872 |
ebi | rs80357872 |
HLI | rs80357872 |
Exac | rs80357872 |
Gnomad | rs80357872 |
Varsome | rs80357872 |
LitVar | rs80357872 |
Map | rs80357872 |
PheGenI | rs80357872 |
Biobank | rs80357872 |
1000 genomes | rs80357872 |
hgdp | rs80357872 |
ensembl | rs80357872 |
geneview | rs80357872 |
scholar | rs80357872 |
rs80357872 | |
pharmgkb | rs80357872 |
gwascentral | rs80357872 |
openSNP | rs80357872 |
23andMe | rs80357872 |
SNPshot | rs80357872 |
SNPdbe | rs80357872 |
MSV3d | rs80357872 |
GWAS Ctlg | rs80357872 |
Max Magnitude | 6 |
rs80357872, also known as 633delC, c.514_514delC and p.Gln172Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357872(-;-) |
Alt | rs80357872(-;-) |
Reference | Rs80357872(C;C) |
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.41251825delG |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048817.6, RCV000083216.5, RCV000130785.3, RCV000212158.2, |