rs397507286
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397507286(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32336835 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507286 |
dbSNP (classic) | rs397507286 |
ClinGen | rs397507286 |
ebi | rs397507286 |
HLI | rs397507286 |
Exac | rs397507286 |
Gnomad | rs397507286 |
Varsome | rs397507286 |
LitVar | rs397507286 |
Map | rs397507286 |
PheGenI | rs397507286 |
Biobank | rs397507286 |
1000 genomes | rs397507286 |
hgdp | rs397507286 |
ensembl | rs397507286 |
geneview | rs397507286 |
scholar | rs397507286 |
rs397507286 | |
pharmgkb | rs397507286 |
gwascentral | rs397507286 |
openSNP | rs397507286 |
23andMe | rs397507286 |
SNPshot | rs397507286 |
SNPdbe | rs397507286 |
MSV3d | rs397507286 |
GWAS Ctlg | rs397507286 |
Max Magnitude | 6 |
aka c.2480dupA (p.Asn827Lysfs)
ClinVar | |
---|---|
Risk | rs397507286(A;A) |
Alt | rs397507286(A;A) |
Reference | Rs397507286(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32910972dupA |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000031368.4, RCV000130443.2, RCV000381040.1, |