rs80358946
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80358946(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32355033 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358946 |
dbSNP (classic) | rs80358946 |
ClinGen | rs80358946 |
ebi | rs80358946 |
HLI | rs80358946 |
Exac | rs80358946 |
Gnomad | rs80358946 |
Varsome | rs80358946 |
LitVar | rs80358946 |
Map | rs80358946 |
PheGenI | rs80358946 |
Biobank | rs80358946 |
1000 genomes | rs80358946 |
hgdp | rs80358946 |
ensembl | rs80358946 |
geneview | rs80358946 |
scholar | rs80358946 |
rs80358946 | |
pharmgkb | rs80358946 |
gwascentral | rs80358946 |
openSNP | rs80358946 |
23andMe | rs80358946 |
SNPshot | rs80358946 |
SNPdbe | rs80358946 |
MSV3d | rs80358946 |
GWAS Ctlg | rs80358946 |
Max Magnitude | 6 |
rs80358946, also known as R2394X, c.7180A>T and p.Arg2394Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80358946(T;T) |
Alt | rs80358946(T;T) |
Reference | Rs80358946(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32929170A>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000045156.3, RCV000077398.5, RCV000131033.3, |