rs273899705
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 rs273899705(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092188 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273899705 |
dbSNP (classic) | rs273899705 |
ClinGen | rs273899705 |
ebi | rs273899705 |
HLI | rs273899705 |
Exac | rs273899705 |
Gnomad | rs273899705 |
Varsome | rs273899705 |
LitVar | rs273899705 |
Map | rs273899705 |
PheGenI | rs273899705 |
Biobank | rs273899705 |
1000 genomes | rs273899705 |
hgdp | rs273899705 |
ensembl | rs273899705 |
geneview | rs273899705 |
scholar | rs273899705 |
rs273899705 | |
pharmgkb | rs273899705 |
gwascentral | rs273899705 |
openSNP | rs273899705 |
23andMe | rs273899705 |
SNPshot | rs273899705 |
SNPdbe | rs273899705 |
MSV3d | rs273899705 |
GWAS Ctlg | rs273899705 |
Max Magnitude | 6 |
rs273899705, also known as 3462delG, c.3343_3343delG and p.Glu1115Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273899705(-;-) |
Alt | rs273899705(-;-) |
Reference | Rs273899705(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.41244205delC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048157.2, RCV000112074.3, |