rs397507676
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GTTGAAATTA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AGTTGAAATT;AGTTGAAATT) | 0 | common in clinvar |
(GTTGAAATTA;GTTGAAATTA) | 0 | common in clinvar |
Make rs397507676(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337911 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507676 |
dbSNP (classic) | rs397507676 |
ClinGen | rs397507676 |
ebi | rs397507676 |
HLI | rs397507676 |
Exac | rs397507676 |
Gnomad | rs397507676 |
Varsome | rs397507676 |
LitVar | rs397507676 |
Map | rs397507676 |
PheGenI | rs397507676 |
Biobank | rs397507676 |
1000 genomes | rs397507676 |
hgdp | rs397507676 |
ensembl | rs397507676 |
geneview | rs397507676 |
scholar | rs397507676 |
rs397507676 | |
pharmgkb | rs397507676 |
gwascentral | rs397507676 |
openSNP | rs397507676 |
23andMe | rs397507676 |
SNPshot | rs397507676 |
SNPdbe | rs397507676 |
MSV3d | rs397507676 |
GWAS Ctlg | rs397507676 |
Max Magnitude | 6 |
aka c.3556_3565delGTTGAAATTA (p.Val1186fs)
ClinVar | |
---|---|
Risk | rs397507676(-;-) |
Alt | rs397507676(-;-) |
Reference | Rs397507676(AGTTGAAATT;AGTTGAAATT) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32912048_32912057delGTTGAAATTA |
CLNSRC | ClinVar |
CLNACC | RCV000044222.2, |