rs397507585
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 5 | Likely BRCA2 mutation pathogenic for breast cancer |
Make rs397507585(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32332870 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507585 |
dbSNP (classic) | rs397507585 |
ClinGen | rs397507585 |
ebi | rs397507585 |
HLI | rs397507585 |
Exac | rs397507585 |
Gnomad | rs397507585 |
Varsome | rs397507585 |
LitVar | rs397507585 |
Map | rs397507585 |
PheGenI | rs397507585 |
Biobank | rs397507585 |
1000 genomes | rs397507585 |
hgdp | rs397507585 |
ensembl | rs397507585 |
geneview | rs397507585 |
scholar | rs397507585 |
rs397507585 | |
pharmgkb | rs397507585 |
gwascentral | rs397507585 |
openSNP | rs397507585 |
23andMe | rs397507585 |
SNPshot | rs397507585 |
SNPdbe | rs397507585 |
MSV3d | rs397507585 |
GWAS Ctlg | rs397507585 |
Max Magnitude | 5 |
aka c.1392_1393insT (p.Val465fs); note this mutation is not expert panel reviewed
ClinVar | |
---|---|
Risk | rs397507585(T;T) |
Alt | rs397507585(T;T) |
Reference | Rs397507585(-;-) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32907007_32907008insT |
CLNSRC | ClinVar |
CLNACC | RCV000043796.2, |