rs80359882
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTACTAGGCATAGCACCGT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(CTACTAGGCATAGCACCGT;CTACTAGGCATAGCACCGT) | 0 | common in clinvar |
Make rs80359882(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43091791 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80359882 |
dbSNP (classic) | rs80359882 |
ClinGen | rs80359882 |
ebi | rs80359882 |
HLI | rs80359882 |
Exac | rs80359882 |
Gnomad | rs80359882 |
Varsome | rs80359882 |
LitVar | rs80359882 |
Map | rs80359882 |
PheGenI | rs80359882 |
Biobank | rs80359882 |
1000 genomes | rs80359882 |
hgdp | rs80359882 |
ensembl | rs80359882 |
geneview | rs80359882 |
scholar | rs80359882 |
rs80359882 | |
pharmgkb | rs80359882 |
gwascentral | rs80359882 |
openSNP | rs80359882 |
23andMe | rs80359882 |
SNPshot | rs80359882 |
SNPdbe | rs80359882 |
MSV3d | rs80359882 |
GWAS Ctlg | rs80359882 |
Max Magnitude | 6 |
rs80359882, also known as 3841del19, c.3722_3740del and p.Ser1241_Val1247?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359882(-;-) |
Alt | rs80359882(-;-) |
Reference | Rs80359882(CTACTAGGCATAGCACCGT;CTACTAGGCATAGCACCGT) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41243808_41243826del19 |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048304.2, RCV000112165.2, |