rs273899703
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 rs273899703(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092305 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273899703 |
dbSNP (classic) | rs273899703 |
ClinGen | rs273899703 |
ebi | rs273899703 |
HLI | rs273899703 |
Exac | rs273899703 |
Gnomad | rs273899703 |
Varsome | rs273899703 |
LitVar | rs273899703 |
Map | rs273899703 |
PheGenI | rs273899703 |
Biobank | rs273899703 |
1000 genomes | rs273899703 |
hgdp | rs273899703 |
ensembl | rs273899703 |
geneview | rs273899703 |
scholar | rs273899703 |
rs273899703 | |
pharmgkb | rs273899703 |
gwascentral | rs273899703 |
openSNP | rs273899703 |
23andMe | rs273899703 |
SNPshot | rs273899703 |
SNPdbe | rs273899703 |
MSV3d | rs273899703 |
GWAS Ctlg | rs273899703 |
Max Magnitude | 6 |
rs273899703, also known as 3345delA, c.3226_3226delA and p.Arg1076Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273899703(-;-) |
Alt | rs273899703(-;-) |
Reference | Rs273899703(A;A) |
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.41244322delT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048104.2, RCV000112032.3, |