rs273898676
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AA;AA) | 0 | common in clinvar |
Make rs273898676(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093460 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273898676 |
dbSNP (classic) | rs273898676 |
ClinGen | rs273898676 |
ebi | rs273898676 |
HLI | rs273898676 |
Exac | rs273898676 |
Gnomad | rs273898676 |
Varsome | rs273898676 |
LitVar | rs273898676 |
Map | rs273898676 |
PheGenI | rs273898676 |
Biobank | rs273898676 |
1000 genomes | rs273898676 |
hgdp | rs273898676 |
ensembl | rs273898676 |
geneview | rs273898676 |
scholar | rs273898676 |
rs273898676 | |
pharmgkb | rs273898676 |
gwascentral | rs273898676 |
openSNP | rs273898676 |
23andMe | rs273898676 |
SNPshot | rs273898676 |
SNPdbe | rs273898676 |
MSV3d | rs273898676 |
GWAS Ctlg | rs273898676 |
Max Magnitude | 6 |
rs273898676, also known as 2189delAA, c.2070_2071delAA and p.Lys690_Arg691LysThrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273898676(-;-) |
Alt | rs273898676(-;-) |
Reference | Rs273898676(AA;AA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245477_41245478delTT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000077091.3, RCV000162849.2, |