rs397507658
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs397507658(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337557 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507658 |
dbSNP (classic) | rs397507658 |
ClinGen | rs397507658 |
ebi | rs397507658 |
HLI | rs397507658 |
Exac | rs397507658 |
Gnomad | rs397507658 |
Varsome | rs397507658 |
LitVar | rs397507658 |
Map | rs397507658 |
PheGenI | rs397507658 |
Biobank | rs397507658 |
1000 genomes | rs397507658 |
hgdp | rs397507658 |
ensembl | rs397507658 |
geneview | rs397507658 |
scholar | rs397507658 |
rs397507658 | |
pharmgkb | rs397507658 |
gwascentral | rs397507658 |
openSNP | rs397507658 |
23andMe | rs397507658 |
SNPshot | rs397507658 |
SNPdbe | rs397507658 |
MSV3d | rs397507658 |
GWAS Ctlg | rs397507658 |
Max Magnitude | 6 |
rs397507658, also known as 3430delG, c.3202delG and p.Val1068TyrfsX9, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs397507658(-;-) |
Alt | rs397507658(-;-) |
Reference | Rs397507658(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32911694delG |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044146.2, RCV000113146.3, |