rs80357747
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(GT;GT) | 0 | Normal |
Make rs80357747(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094833 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357747 |
dbSNP (classic) | rs80357747 |
ClinGen | rs80357747 |
ebi | rs80357747 |
HLI | rs80357747 |
Exac | rs80357747 |
Gnomad | rs80357747 |
Varsome | rs80357747 |
LitVar | rs80357747 |
Map | rs80357747 |
PheGenI | rs80357747 |
Biobank | rs80357747 |
1000 genomes | rs80357747 |
hgdp | rs80357747 |
ensembl | rs80357747 |
geneview | rs80357747 |
scholar | rs80357747 |
rs80357747 | |
pharmgkb | rs80357747 |
gwascentral | rs80357747 |
openSNP | rs80357747 |
23andMe | rs80357747 |
SNPshot | rs80357747 |
SNPdbe | rs80357747 |
MSV3d | rs80357747 |
GWAS Ctlg | rs80357747 |
Max Magnitude | 6 |
rs80357747, also known as 816delGT, c.697_698delGT and p.Val233Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357747(-;-) |
Alt | rs80357747(-;-) |
Reference | Rs80357747(GT;GT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41246850_41246851delAC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031276.8, RCV000049102.3, RCV000131861.3, |