rs41293477
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs41293477(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337513 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41293477 |
dbSNP (classic) | rs41293477 |
ClinGen | rs41293477 |
ebi | rs41293477 |
HLI | rs41293477 |
Exac | rs41293477 |
Gnomad | rs41293477 |
Varsome | rs41293477 |
LitVar | rs41293477 |
Map | rs41293477 |
PheGenI | rs41293477 |
Biobank | rs41293477 |
1000 genomes | rs41293477 |
hgdp | rs41293477 |
ensembl | rs41293477 |
geneview | rs41293477 |
scholar | rs41293477 |
rs41293477 | |
pharmgkb | rs41293477 |
gwascentral | rs41293477 |
openSNP | rs41293477 |
23andMe | rs41293477 |
SNPshot | rs41293477 |
SNPdbe | rs41293477 |
MSV3d | rs41293477 |
GWAS Ctlg | rs41293477 |
Max Magnitude | 6 |
rs41293477, also known as L1053X, c.3158T>G, 3386T>G and p.Leu1053Ter, is a variant in the BRCA2 gene. The rare variant allele is considered pathogenic for breast cancer by three submitters to ClinVar.
ClinVar | |
---|---|
Risk | rs41293477(G;G) |
Alt | rs41293477(G;G) |
Reference | Rs41293477(T;T) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32911650T>G |
CLNSRC | ClinVar |
CLNACC | RCV000031401.6, RCV000044127.2, RCV000162916.1, RCV000424640.1, |