rs80359340
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GACA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(CAGA;CAGA) | 0 | common in clinvar |
(GACA;GACA) | 0 | common in clinvar |
Make rs80359340(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337008 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359340 |
dbSNP (classic) | rs80359340 |
ClinGen | rs80359340 |
ebi | rs80359340 |
HLI | rs80359340 |
Exac | rs80359340 |
Gnomad | rs80359340 |
Varsome | rs80359340 |
LitVar | rs80359340 |
Map | rs80359340 |
PheGenI | rs80359340 |
Biobank | rs80359340 |
1000 genomes | rs80359340 |
hgdp | rs80359340 |
ensembl | rs80359340 |
geneview | rs80359340 |
scholar | rs80359340 |
rs80359340 | |
pharmgkb | rs80359340 |
gwascentral | rs80359340 |
openSNP | rs80359340 |
23andMe | rs80359340 |
SNPshot | rs80359340 |
SNPdbe | rs80359340 |
MSV3d | rs80359340 |
GWAS Ctlg | rs80359340 |
Merged from | Rs760792406 |
Max Magnitude | 6 |
rs80359340, also known as 2881del4, c.2653_2656delGACA and p.Asp885_Asn886?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359340(-;-) Rs80359340(CAGA;CAGA) |
Alt | rs80359340(-;-) Rs80359340(CAGA;CAGA) |
Reference | Rs80359340(GACA;GACA) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32911145_32911148delGACA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044033.2, RCV000113073.3, RCV000162913.2, RCV000485965.1, |