rs80359304
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TTAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TTTA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TTTA;TTTA) | 0 | common in clinvar |
Make rs80359304(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32333250 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359304 |
dbSNP (classic) | rs80359304 |
ClinGen | rs80359304 |
ebi | rs80359304 |
HLI | rs80359304 |
Exac | rs80359304 |
Gnomad | rs80359304 |
Varsome | rs80359304 |
LitVar | rs80359304 |
Map | rs80359304 |
PheGenI | rs80359304 |
Biobank | rs80359304 |
1000 genomes | rs80359304 |
hgdp | rs80359304 |
ensembl | rs80359304 |
geneview | rs80359304 |
scholar | rs80359304 |
rs80359304 | |
pharmgkb | rs80359304 |
gwascentral | rs80359304 |
openSNP | rs80359304 |
23andMe | rs80359304 |
SNPshot | rs80359304 |
SNPdbe | rs80359304 |
MSV3d | rs80359304 |
GWAS Ctlg | rs80359304 |
Merged from | Rs80359305 |
Max Magnitude | 6 |
rs80359304, also known as c.1769_1772delTTAT, 2000del4, c.1772_1775delTTTA and p.Ile591_Tyr592?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359304(-;-) rs80359304(TTAT;TTAT) |
Alt | rs80359304(-;-) rs80359304(TTAT;TTAT) |
Reference | Rs80359304(TTTA;TTTA) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32907388_32907391delTTAT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000043880.4, RCV000112966.4, RCV000160268.1, RCV000213388.1, |