rs80359212
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359212(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32394814 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359212 |
dbSNP (classic) | rs80359212 |
ClinGen | rs80359212 |
ebi | rs80359212 |
HLI | rs80359212 |
Exac | rs80359212 |
Gnomad | rs80359212 |
Varsome | rs80359212 |
LitVar | rs80359212 |
Map | rs80359212 |
PheGenI | rs80359212 |
Biobank | rs80359212 |
1000 genomes | rs80359212 |
hgdp | rs80359212 |
ensembl | rs80359212 |
geneview | rs80359212 |
scholar | rs80359212 |
rs80359212 | |
pharmgkb | rs80359212 |
gwascentral | rs80359212 |
openSNP | rs80359212 |
23andMe | rs80359212 |
SNPshot | rs80359212 |
SNPdbe | rs80359212 |
MSV3d | rs80359212 |
GWAS Ctlg | rs80359212 |
Max Magnitude | 6 |
rs80359212, also known as R3128X, c.9382C>T and p.Arg3128Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359212(T;T) |
Alt | rs80359212(T;T) |
Reference | Rs80359212(C;C) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32968951C>T |
CLNSRC | HGMD |
CLNACC | RCV000045807.5, RCV000077469.10, RCV000131048.3, RCV000160169.3, RCV000240732.3, RCV000474912.1, |