rs80359326
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GACT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(ACTG;ACTG) | 0 | common in clinvar |
(GACT;GACT) | 0 | common in clinvar |
Make rs80359326(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32336609 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359326 |
dbSNP (classic) | rs80359326 |
ClinGen | rs80359326 |
ebi | rs80359326 |
HLI | rs80359326 |
Exac | rs80359326 |
Gnomad | rs80359326 |
Varsome | rs80359326 |
LitVar | rs80359326 |
Map | rs80359326 |
PheGenI | rs80359326 |
Biobank | rs80359326 |
1000 genomes | rs80359326 |
hgdp | rs80359326 |
ensembl | rs80359326 |
geneview | rs80359326 |
scholar | rs80359326 |
rs80359326 | |
pharmgkb | rs80359326 |
gwascentral | rs80359326 |
openSNP | rs80359326 |
23andMe | rs80359326 |
SNPshot | rs80359326 |
SNPdbe | rs80359326 |
MSV3d | rs80359326 |
GWAS Ctlg | rs80359326 |
Max Magnitude | 6 |
rs80359326, also known as 2482del4, c.2254_2257delGACT and p.Asp752_Phe753?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359326(-;-) |
Alt | rs80359326(-;-) |
Reference | Rs80359326(ACTG;ACTG) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32910746_32910749delGACT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000043962.2, RCV000113027.2, |