rs80359375
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AATT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TAAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AATT;AATT) | 0 | common in clinvar |
Make rs80359375(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32337547 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359375 |
dbSNP (classic) | rs80359375 |
ClinGen | rs80359375 |
ebi | rs80359375 |
HLI | rs80359375 |
Exac | rs80359375 |
Gnomad | rs80359375 |
Varsome | rs80359375 |
LitVar | rs80359375 |
Map | rs80359375 |
PheGenI | rs80359375 |
Biobank | rs80359375 |
1000 genomes | rs80359375 |
hgdp | rs80359375 |
ensembl | rs80359375 |
geneview | rs80359375 |
scholar | rs80359375 |
rs80359375 | |
pharmgkb | rs80359375 |
gwascentral | rs80359375 |
openSNP | rs80359375 |
23andMe | rs80359375 |
SNPshot | rs80359375 |
SNPdbe | rs80359375 |
MSV3d | rs80359375 |
GWAS Ctlg | rs80359375 |
Merged from | Rs80359376 |
Max Magnitude | 6 |
rs80359375, also known as c.3195_3198delTAAT, 3420del4, c.3192_3195delAATT and p.Ser1064_Ile1065?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359375(-;-) rs80359375(TAAT;TAAT) |
Alt | rs80359375(-;-) rs80359375(TAAT;TAAT) |
Reference | Rs80359375(AATT;AATT) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32911687_32911690delTAAT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044143.3, RCV000113145.5, RCV000456127.1, |