rs80359380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359380(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337619 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359380 |
dbSNP (classic) | rs80359380 |
ClinGen | rs80359380 |
ebi | rs80359380 |
HLI | rs80359380 |
Exac | rs80359380 |
Gnomad | rs80359380 |
Varsome | rs80359380 |
LitVar | rs80359380 |
Map | rs80359380 |
PheGenI | rs80359380 |
Biobank | rs80359380 |
1000 genomes | rs80359380 |
hgdp | rs80359380 |
ensembl | rs80359380 |
geneview | rs80359380 |
scholar | rs80359380 |
rs80359380 | |
pharmgkb | rs80359380 |
gwascentral | rs80359380 |
openSNP | rs80359380 |
23andMe | rs80359380 |
SNPshot | rs80359380 |
SNPdbe | rs80359380 |
MSV3d | rs80359380 |
GWAS Ctlg | rs80359380 |
Max Magnitude | 6 |
rs80359380, also known as 3492insT, c.3264_3265insT, c.3264dupT and p.Pro1088_Gln1089?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i5010497
ClinVar | |
---|---|
Risk | rs80359380(T;T) rs80359380(TT;TT) |
Alt | rs80359380(T;T) rs80359380(TT;TT) |
Reference | Rs80359380(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32911756_32911757insTT; NC_000013.10:g.32911756dupT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044162.2, RCV000031411.8, RCV000044163.6, RCV000131493.3, RCV000203627.3, RCV000459431.1, |