rs80359068
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359068(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32332296 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359068 |
dbSNP (classic) | rs80359068 |
ClinGen | rs80359068 |
ebi | rs80359068 |
HLI | rs80359068 |
Exac | rs80359068 |
Gnomad | rs80359068 |
Varsome | rs80359068 |
LitVar | rs80359068 |
Map | rs80359068 |
PheGenI | rs80359068 |
Biobank | rs80359068 |
1000 genomes | rs80359068 |
hgdp | rs80359068 |
ensembl | rs80359068 |
geneview | rs80359068 |
scholar | rs80359068 |
rs80359068 | |
pharmgkb | rs80359068 |
gwascentral | rs80359068 |
openSNP | rs80359068 |
23andMe | rs80359068 |
SNPshot | rs80359068 |
SNPdbe | rs80359068 |
MSV3d | rs80359068 |
GWAS Ctlg | rs80359068 |
Max Magnitude | 6 |
rs80359068, also known as S273X, c.818C>G and p.Ser273Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359068(A;A) rs80359068(G;G) rs80359068(T;T) |
Alt | rs80359068(A;A) rs80359068(G;G) rs80359068(T;T) |
Reference | Rs80359068(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32906433C>A; NC_000013.10:g.32906433C>G |
CLNSRC | ClinVar |
CLNACC | RCV000045447.2, RCV000219107.1, RCV000239330.2, RCV000045448.2, RCV000112854.3, |