rs80359159
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 rs80359159(C;G) |
Make rs80359159(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32379872 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359159 |
dbSNP (classic) | rs80359159 |
ClinGen | rs80359159 |
ebi | rs80359159 |
HLI | rs80359159 |
Exac | rs80359159 |
Gnomad | rs80359159 |
Varsome | rs80359159 |
LitVar | rs80359159 |
Map | rs80359159 |
PheGenI | rs80359159 |
Biobank | rs80359159 |
1000 genomes | rs80359159 |
hgdp | rs80359159 |
ensembl | rs80359159 |
geneview | rs80359159 |
scholar | rs80359159 |
rs80359159 | |
pharmgkb | rs80359159 |
gwascentral | rs80359159 |
openSNP | rs80359159 |
23andMe | rs80359159 |
SNPshot | rs80359159 |
SNPdbe | rs80359159 |
MSV3d | rs80359159 |
GWAS Ctlg | rs80359159 |
Max Magnitude | 6 |
rs80359159, also known as Q3026X, c.9076C>T and p.Gln3026Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359159(G;G) rs80359159(T;T) |
Alt | rs80359159(G;G) rs80359159(T;T) |
Reference | Rs80359159(C;C) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32954009C>G; NC_000013.10:g.32954009C>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000045705.3, RCV000114041.1, RCV000129636.2, RCV000031790.6, RCV000045706.3, RCV000131038.3, RCV000413921.1, |