rs80357991
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs80357991(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092532 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357991 |
dbSNP (classic) | rs80357991 |
ClinGen | rs80357991 |
ebi | rs80357991 |
HLI | rs80357991 |
Exac | rs80357991 |
Gnomad | rs80357991 |
Varsome | rs80357991 |
LitVar | rs80357991 |
Map | rs80357991 |
PheGenI | rs80357991 |
Biobank | rs80357991 |
1000 genomes | rs80357991 |
hgdp | rs80357991 |
ensembl | rs80357991 |
geneview | rs80357991 |
scholar | rs80357991 |
rs80357991 | |
pharmgkb | rs80357991 |
gwascentral | rs80357991 |
openSNP | rs80357991 |
23andMe | rs80357991 |
SNPshot | rs80357991 |
SNPdbe | rs80357991 |
MSV3d | rs80357991 |
GWAS Ctlg | rs80357991 |
Max Magnitude | 6 |
rs80357991, also known as 3118delA, c.2999_2999delA and p.Glu1000Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357991(-;-) |
Alt | rs80357991(-;-) |
Reference | Rs80357991(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41244549delT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048036.3, RCV000083193.5, RCV000479376.1, |