rs80359310
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359310(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32333292 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359310 |
dbSNP (classic) | rs80359310 |
ClinGen | rs80359310 |
ebi | rs80359310 |
HLI | rs80359310 |
Exac | rs80359310 |
Gnomad | rs80359310 |
Varsome | rs80359310 |
LitVar | rs80359310 |
Map | rs80359310 |
PheGenI | rs80359310 |
Biobank | rs80359310 |
1000 genomes | rs80359310 |
hgdp | rs80359310 |
ensembl | rs80359310 |
geneview | rs80359310 |
scholar | rs80359310 |
rs80359310 | |
pharmgkb | rs80359310 |
gwascentral | rs80359310 |
openSNP | rs80359310 |
23andMe | rs80359310 |
SNPshot | rs80359310 |
SNPdbe | rs80359310 |
MSV3d | rs80359310 |
GWAS Ctlg | rs80359310 |
Merged from | Rs397507609 |
Max Magnitude | 6 |
rs80359310, also known as 2042insA, c.1814_1815insA and p.Ile605?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359310(A;A) |
Alt | rs80359310(A;A) |
Reference | Rs80359310(-;-) |
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.32907430dupA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000043898.2, RCV000112980.3, |