rs80357961
From SNPedia
Merged into | rs80357819 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TCTCA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TCTCA;TCTCA) | 0 | common in clinvar |
Make rs80357961(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092661 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357961 |
dbSNP (classic) | rs80357961 |
ClinGen | rs80357961 |
ebi | rs80357961 |
HLI | rs80357961 |
Exac | rs80357961 |
Gnomad | rs80357961 |
Varsome | rs80357961 |
LitVar | rs80357961 |
Map | rs80357961 |
PheGenI | rs80357961 |
Biobank | rs80357961 |
1000 genomes | rs80357961 |
hgdp | rs80357961 |
ensembl | rs80357961 |
geneview | rs80357961 |
scholar | rs80357961 |
rs80357961 | |
pharmgkb | rs80357961 |
gwascentral | rs80357961 |
openSNP | rs80357961 |
23andMe | rs80357961 |
SNPshot | rs80357961 |
SNPdbe | rs80357961 |
MSV3d | rs80357961 |
GWAS Ctlg | rs80357961 |
Status | Merged into rs80357819 |
Max Magnitude | 6 |
rs80357961, also known as 2985del5, c.2866_2870delTCTCA and p.Ser956_Gln957?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80357961(TCTCA;TCTCA) |
Significance | Pathogenic |
Disease | not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | not provided Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41244678_41244682delTGAGA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047993.5, RCV000111951.4, RCV000195360.1, RCV000239021.1, |