rs80359433
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80359433(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338524 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359433 |
dbSNP (classic) | rs80359433 |
ClinGen | rs80359433 |
ebi | rs80359433 |
HLI | rs80359433 |
Exac | rs80359433 |
Gnomad | rs80359433 |
Varsome | rs80359433 |
LitVar | rs80359433 |
Map | rs80359433 |
PheGenI | rs80359433 |
Biobank | rs80359433 |
1000 genomes | rs80359433 |
hgdp | rs80359433 |
ensembl | rs80359433 |
geneview | rs80359433 |
scholar | rs80359433 |
rs80359433 | |
pharmgkb | rs80359433 |
gwascentral | rs80359433 |
openSNP | rs80359433 |
23andMe | rs80359433 |
SNPshot | rs80359433 |
SNPdbe | rs80359433 |
MSV3d | rs80359433 |
GWAS Ctlg | rs80359433 |
Max Magnitude | 6 |
rs80359433, also known as c.4168_4169delTT, c.4169dupT, 4397delT, c.4169delT and p.Leu1390Trpfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar. All forms are considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359433(-;-) |
Alt | rs80359433(-;-) |
Reference | Rs80359433(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32912661delT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044364.2, RCV000113282.3, |