rs80359369
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AACAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AACAT;AACAT) | 0 | common in clinvar |
Make rs80359369(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32337422 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359369 |
dbSNP (classic) | rs80359369 |
ClinGen | rs80359369 |
ebi | rs80359369 |
HLI | rs80359369 |
Exac | rs80359369 |
Gnomad | rs80359369 |
Varsome | rs80359369 |
LitVar | rs80359369 |
Map | rs80359369 |
PheGenI | rs80359369 |
Biobank | rs80359369 |
1000 genomes | rs80359369 |
hgdp | rs80359369 |
ensembl | rs80359369 |
geneview | rs80359369 |
scholar | rs80359369 |
rs80359369 | |
pharmgkb | rs80359369 |
gwascentral | rs80359369 |
openSNP | rs80359369 |
23andMe | rs80359369 |
SNPshot | rs80359369 |
SNPdbe | rs80359369 |
MSV3d | rs80359369 |
GWAS Ctlg | rs80359369 |
Max Magnitude | 6 |
rs80359369, also known as 3295del5, c.3067_3071delAACAT and p.Asn1023_Ile1024?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359369(-;-) |
Alt | rs80359369(-;-) |
Reference | Rs80359369(AACAT;AACAT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32911559_32911563delAACAT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000113130.3, |