rs397515636
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
(-;TGCT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TTGC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397515636(TGCT;TGCT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 32338333 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397515636 |
dbSNP (classic) | rs397515636 |
ClinGen | rs397515636 |
ebi | rs397515636 |
HLI | rs397515636 |
Exac | rs397515636 |
Gnomad | rs397515636 |
Varsome | rs397515636 |
LitVar | rs397515636 |
Map | rs397515636 |
PheGenI | rs397515636 |
Biobank | rs397515636 |
1000 genomes | rs397515636 |
hgdp | rs397515636 |
ensembl | rs397515636 |
geneview | rs397515636 |
scholar | rs397515636 |
rs397515636 | |
pharmgkb | rs397515636 |
gwascentral | rs397515636 |
openSNP | rs397515636 |
23andMe | rs397515636 |
SNPshot | rs397515636 |
SNPdbe | rs397515636 |
MSV3d | rs397515636 |
GWAS Ctlg | rs397515636 |
Max Magnitude | 6 |
Two HGVS names correspond to this single variant: c.3975_3978dupTGCT (p.Ala1327Cysfs), and, c.3978_3979insTTGC (p.Ala1327Leufs)