rs273898679
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs273898679(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093389 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273898679 |
dbSNP (classic) | rs273898679 |
ClinGen | rs273898679 |
ebi | rs273898679 |
HLI | rs273898679 |
Exac | rs273898679 |
Gnomad | rs273898679 |
Varsome | rs273898679 |
LitVar | rs273898679 |
Map | rs273898679 |
PheGenI | rs273898679 |
Biobank | rs273898679 |
1000 genomes | rs273898679 |
hgdp | rs273898679 |
ensembl | rs273898679 |
geneview | rs273898679 |
scholar | rs273898679 |
rs273898679 | |
pharmgkb | rs273898679 |
gwascentral | rs273898679 |
openSNP | rs273898679 |
23andMe | rs273898679 |
SNPshot | rs273898679 |
SNPdbe | rs273898679 |
MSV3d | rs273898679 |
GWAS Ctlg | rs273898679 |
Max Magnitude | 6 |
rs273898679, also known as 2261delT, c.2142_2142delT and p.Asn714Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273898679(-;-) |
Alt | rs273898679(-;-) |
Reference | Rs273898679(T;T) |
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.41245406delA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047731.2, RCV000111776.3, |