rs80359584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CTTAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TAACT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TAACT;TAACT) | 0 | common in clinvar |
Make rs80359584(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32340757 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359584 |
dbSNP (classic) | rs80359584 |
ClinGen | rs80359584 |
ebi | rs80359584 |
HLI | rs80359584 |
Exac | rs80359584 |
Gnomad | rs80359584 |
Varsome | rs80359584 |
LitVar | rs80359584 |
Map | rs80359584 |
PheGenI | rs80359584 |
Biobank | rs80359584 |
1000 genomes | rs80359584 |
hgdp | rs80359584 |
ensembl | rs80359584 |
geneview | rs80359584 |
scholar | rs80359584 |
rs80359584 | |
pharmgkb | rs80359584 |
gwascentral | rs80359584 |
openSNP | rs80359584 |
23andMe | rs80359584 |
SNPshot | rs80359584 |
SNPdbe | rs80359584 |
MSV3d | rs80359584 |
GWAS Ctlg | rs80359584 |
Merged from | Rs80359585 |
Max Magnitude | 6 |
rs80359584, also known as c.6405_6409delTAACT, 6630del5, c.6402_6406delTAACT and p.Asn2134_Leu2136?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359584(-;-) rs80359584(CTTAA;CTTAA) |
Alt | rs80359584(-;-) rs80359584(CTTAA;CTTAA) |
Reference | Rs80359584(TAACT;TAACT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of breast Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of breast Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32914897_32914901delCTTAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031625.10, RCV000044934.8, RCV000160301.3, RCV000162930.3, RCV000240801.1, RCV000456954.1, |