rs397507349
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGT;AGT) | 0 | common in clinvar |
(TAG;TAG) | 0 | common in clinvar |
Make rs397507349(-;-) |
Make rs397507349(-;TAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32339584 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507349 |
dbSNP (classic) | rs397507349 |
ClinGen | rs397507349 |
ebi | rs397507349 |
HLI | rs397507349 |
Exac | rs397507349 |
Gnomad | rs397507349 |
Varsome | rs397507349 |
LitVar | rs397507349 |
Map | rs397507349 |
PheGenI | rs397507349 |
Biobank | rs397507349 |
1000 genomes | rs397507349 |
hgdp | rs397507349 |
ensembl | rs397507349 |
geneview | rs397507349 |
scholar | rs397507349 |
rs397507349 | |
pharmgkb | rs397507349 |
gwascentral | rs397507349 |
openSNP | rs397507349 |
23andMe | rs397507349 |
SNPshot | rs397507349 |
SNPdbe | rs397507349 |
MSV3d | rs397507349 |
GWAS Ctlg | rs397507349 |
Max Magnitude | 0 |
c.5229_5231delTAG (p.Ser1744del); variant of uncertain significance with respect to breast cancer according to ClinVar
ClinVar | |
---|---|
Risk | rs397507349(-;-) |
Alt | rs397507349(-;-) |
Reference | Rs397507349(AGT;AGT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32913721_32913723delTAG |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000031534.3, RCV000129999.3, |