rs80357715
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80357715(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43093375 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357715 |
dbSNP (classic) | rs80357715 |
ClinGen | rs80357715 |
ebi | rs80357715 |
HLI | rs80357715 |
Exac | rs80357715 |
Gnomad | rs80357715 |
Varsome | rs80357715 |
LitVar | rs80357715 |
Map | rs80357715 |
PheGenI | rs80357715 |
Biobank | rs80357715 |
1000 genomes | rs80357715 |
hgdp | rs80357715 |
ensembl | rs80357715 |
geneview | rs80357715 |
scholar | rs80357715 |
rs80357715 | |
pharmgkb | rs80357715 |
gwascentral | rs80357715 |
openSNP | rs80357715 |
23andMe | rs80357715 |
SNPshot | rs80357715 |
SNPdbe | rs80357715 |
MSV3d | rs80357715 |
GWAS Ctlg | rs80357715 |
Merged from | Rs397508942, Rs606231389 |
Max Magnitude | 6 |
rs80357715, also known as 2274insA, c.2155_2156insA and p.Lys719?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357715(A;A) |
Alt | rs80357715(A;A) |
Reference | Rs80357715(-;-) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245391dupT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047735.3, RCV000111778.3, RCV000210761.1, |