rs80357635
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | Normal |
Make rs80357635(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092302 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357635 |
dbSNP (classic) | rs80357635 |
ClinGen | rs80357635 |
ebi | rs80357635 |
HLI | rs80357635 |
Exac | rs80357635 |
Gnomad | rs80357635 |
Varsome | rs80357635 |
LitVar | rs80357635 |
Map | rs80357635 |
PheGenI | rs80357635 |
Biobank | rs80357635 |
1000 genomes | rs80357635 |
hgdp | rs80357635 |
ensembl | rs80357635 |
geneview | rs80357635 |
scholar | rs80357635 |
rs80357635 | |
pharmgkb | rs80357635 |
gwascentral | rs80357635 |
openSNP | rs80357635 |
23andMe | rs80357635 |
SNPshot | rs80357635 |
SNPdbe | rs80357635 |
MSV3d | rs80357635 |
GWAS Ctlg | rs80357635 |
Max Magnitude | 6 |
rs80357635, also known as 3347delAG, c.3228_3229delAG and p.Arg1076_Gly1077ArgAlafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357635(-;-) |
Alt | rs80357635(-;-) |
Reference | Rs80357635(AG;AG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41244319_41244320delCT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031097.9, RCV000048107.6, RCV000162862.2, RCV000225762.2, RCV000473763.1, |