rs397507859
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397507859(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340824 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507859 |
dbSNP (classic) | rs397507859 |
ClinGen | rs397507859 |
ebi | rs397507859 |
HLI | rs397507859 |
Exac | rs397507859 |
Gnomad | rs397507859 |
Varsome | rs397507859 |
LitVar | rs397507859 |
Map | rs397507859 |
PheGenI | rs397507859 |
Biobank | rs397507859 |
1000 genomes | rs397507859 |
hgdp | rs397507859 |
ensembl | rs397507859 |
geneview | rs397507859 |
scholar | rs397507859 |
rs397507859 | |
pharmgkb | rs397507859 |
gwascentral | rs397507859 |
openSNP | rs397507859 |
23andMe | rs397507859 |
SNPshot | rs397507859 |
SNPdbe | rs397507859 |
MSV3d | rs397507859 |
GWAS Ctlg | rs397507859 |
Max Magnitude | 6 |
aka c.6469C>T (p.Gln2157Ter)
ClinVar | |
---|---|
Risk | rs397507859(G;G) rs397507859(T;T) |
Alt | rs397507859(G;G) rs397507859(T;T) |
Reference | Rs397507859(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32914961C>G; NC_000013.10:g.32914961C>T |
CLNSRC | ClinVar |
CLNACC | RCV000214385.1, RCV000462334.1, RCV000483077.1, RCV000044966.2, RCV000241247.2, |