rs80359478
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TG;TG) | 0 | common in clinvar |
Make rs80359478(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32339397 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359478 |
dbSNP (classic) | rs80359478 |
ClinGen | rs80359478 |
ebi | rs80359478 |
HLI | rs80359478 |
Exac | rs80359478 |
Gnomad | rs80359478 |
Varsome | rs80359478 |
LitVar | rs80359478 |
Map | rs80359478 |
PheGenI | rs80359478 |
Biobank | rs80359478 |
1000 genomes | rs80359478 |
hgdp | rs80359478 |
ensembl | rs80359478 |
geneview | rs80359478 |
scholar | rs80359478 |
rs80359478 | |
pharmgkb | rs80359478 |
gwascentral | rs80359478 |
openSNP | rs80359478 |
23andMe | rs80359478 |
SNPshot | rs80359478 |
SNPdbe | rs80359478 |
MSV3d | rs80359478 |
GWAS Ctlg | rs80359478 |
Max Magnitude | 6 |
rs80359478, also known as 5270delTG, c.5042_5043delTG and p.Val1681Glufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359478(-;-) |
Alt | rs80359478(-;-) |
Reference | Rs80359478(TG;TG) |
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.32913534_32913535delTG |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031521.6, RCV000044543.3, RCV000217031.1, RCV000221298.1, |