rs273897653
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs273897653(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094365 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273897653 |
dbSNP (classic) | rs273897653 |
ClinGen | rs273897653 |
ebi | rs273897653 |
HLI | rs273897653 |
Exac | rs273897653 |
Gnomad | rs273897653 |
Varsome | rs273897653 |
LitVar | rs273897653 |
Map | rs273897653 |
PheGenI | rs273897653 |
Biobank | rs273897653 |
1000 genomes | rs273897653 |
hgdp | rs273897653 |
ensembl | rs273897653 |
geneview | rs273897653 |
scholar | rs273897653 |
rs273897653 | |
pharmgkb | rs273897653 |
gwascentral | rs273897653 |
openSNP | rs273897653 |
23andMe | rs273897653 |
SNPshot | rs273897653 |
SNPdbe | rs273897653 |
MSV3d | rs273897653 |
GWAS Ctlg | rs273897653 |
Max Magnitude | 6 |
rs273897653, also known as 1285delG, c.1166_1166delG and p.Ser389Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273897653(-;-) |
Alt | rs273897653(-;-) |
Reference | Rs273897653(G;G) |
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.41246382delC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047369.2, RCV000111563.2, |