rs397507871
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TGTT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(GTTT;GTTT) | 0 | common in clinvar |
(TGTT;TGTT) | 0 | common in clinvar |
Make rs397507871(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340989 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507871 |
dbSNP (classic) | rs397507871 |
ClinGen | rs397507871 |
ebi | rs397507871 |
HLI | rs397507871 |
Exac | rs397507871 |
Gnomad | rs397507871 |
Varsome | rs397507871 |
LitVar | rs397507871 |
Map | rs397507871 |
PheGenI | rs397507871 |
Biobank | rs397507871 |
1000 genomes | rs397507871 |
hgdp | rs397507871 |
ensembl | rs397507871 |
geneview | rs397507871 |
scholar | rs397507871 |
rs397507871 | |
pharmgkb | rs397507871 |
gwascentral | rs397507871 |
openSNP | rs397507871 |
23andMe | rs397507871 |
SNPshot | rs397507871 |
SNPdbe | rs397507871 |
MSV3d | rs397507871 |
GWAS Ctlg | rs397507871 |
Max Magnitude | 6 |
aka c.6634_6637delTGTT (p.Cys2212Leufs)
ClinVar | |
---|---|
Risk | rs397507871(-;-) |
Alt | rs397507871(-;-) |
Reference | Rs397507871(GTTT;GTTT) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32915126_32915129delTGTT |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000044999.2, RCV000132328.3, RCV000241285.2, |