rs56329598
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs56329598(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093316 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs56329598 |
dbSNP (classic) | rs56329598 |
ClinGen | rs56329598 |
ebi | rs56329598 |
HLI | rs56329598 |
Exac | rs56329598 |
Gnomad | rs56329598 |
Varsome | rs56329598 |
LitVar | rs56329598 |
Map | rs56329598 |
PheGenI | rs56329598 |
Biobank | rs56329598 |
1000 genomes | rs56329598 |
hgdp | rs56329598 |
ensembl | rs56329598 |
geneview | rs56329598 |
scholar | rs56329598 |
rs56329598 | |
pharmgkb | rs56329598 |
gwascentral | rs56329598 |
openSNP | rs56329598 |
23andMe | rs56329598 |
SNPshot | rs56329598 |
SNPdbe | rs56329598 |
MSV3d | rs56329598 |
GWAS Ctlg | rs56329598 |
Max Magnitude | 6 |
rs56329598, also known as K739X, c.2215A>T and p.Lys739Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs56329598(G;G) rs56329598(T;T) |
Alt | rs56329598(G;G) rs56329598(T;T) |
Reference | Rs56329598(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.41245333T>A |
CLNSRC | ClinVar |
CLNACC | RCV000047763.2, RCV000111795.3, |