rs80359714
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;AGAG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
(AGAG;AGAG) | 0 | common/normal |
Make rs80359714(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32371001 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359714 |
dbSNP (classic) | rs80359714 |
ClinGen | rs80359714 |
ebi | rs80359714 |
HLI | rs80359714 |
Exac | rs80359714 |
Gnomad | rs80359714 |
Varsome | rs80359714 |
LitVar | rs80359714 |
Map | rs80359714 |
PheGenI | rs80359714 |
Biobank | rs80359714 |
1000 genomes | rs80359714 |
hgdp | rs80359714 |
ensembl | rs80359714 |
geneview | rs80359714 |
scholar | rs80359714 |
rs80359714 | |
pharmgkb | rs80359714 |
gwascentral | rs80359714 |
openSNP | rs80359714 |
23andMe | rs80359714 |
SNPshot | rs80359714 |
SNPdbe | rs80359714 |
MSV3d | rs80359714 |
GWAS Ctlg | rs80359714 |
Merged from | Rs80359716 |
Max Magnitude | 6 |
rs80359714, also known as c.8533_8534delAG, 8761delAG, c.8533_8534AGAG, c.8533_8534delAG and p.Arg2845=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359714(-;-) |
Alt | rs80359714(-;-) |
Reference | Rs80359714(AG;AG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32945142_32945143delAG |
CLNSRC | Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
CLNACC | RCV000009915.17, RCV000045550.9, RCV000131085.3, RCV000160308.4, |