rs397515635
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
(-;CAAC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TTAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397515635(-;TTAG) |
Make rs397515635(TTAG;TTAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32332667 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397515635 |
dbSNP (classic) | rs397515635 |
ClinGen | rs397515635 |
ebi | rs397515635 |
HLI | rs397515635 |
Exac | rs397515635 |
Gnomad | rs397515635 |
Varsome | rs397515635 |
LitVar | rs397515635 |
Map | rs397515635 |
PheGenI | rs397515635 |
Biobank | rs397515635 |
1000 genomes | rs397515635 |
hgdp | rs397515635 |
ensembl | rs397515635 |
geneview | rs397515635 |
scholar | rs397515635 |
rs397515635 | |
pharmgkb | rs397515635 |
gwascentral | rs397515635 |
openSNP | rs397515635 |
23andMe | rs397515635 |
SNPshot | rs397515635 |
SNPdbe | rs397515635 |
MSV3d | rs397515635 |
GWAS Ctlg | rs397515635 |
Max Magnitude | 6 |
aka c.1188_1189insTTAG (p.Gln397fs), c.1189_1190insTTAT (p.Gln397fs) and also c.1189_1190insTTAG (p.Gln397fs), all of which are considered pathogenic for breast cancer in ClinVar
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312]