rs80359626
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CTTAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TCTTA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(CTTAT;CTTAT) | 0 | common in clinvar |
Make rs80359626(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32341184 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359626 |
dbSNP (classic) | rs80359626 |
ClinGen | rs80359626 |
ebi | rs80359626 |
HLI | rs80359626 |
Exac | rs80359626 |
Gnomad | rs80359626 |
Varsome | rs80359626 |
LitVar | rs80359626 |
Map | rs80359626 |
PheGenI | rs80359626 |
Biobank | rs80359626 |
1000 genomes | rs80359626 |
hgdp | rs80359626 |
ensembl | rs80359626 |
geneview | rs80359626 |
scholar | rs80359626 |
rs80359626 | |
pharmgkb | rs80359626 |
gwascentral | rs80359626 |
openSNP | rs80359626 |
23andMe | rs80359626 |
SNPshot | rs80359626 |
SNPdbe | rs80359626 |
MSV3d | rs80359626 |
GWAS Ctlg | rs80359626 |
Merged from | Rs80359627 |
Max Magnitude | 6 |
rs80359626, also known as c.6833_6837delCTTAT, 7057del5, c.6829_6833delCTTAT and p.Leu2277_Ile2278?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359626(-;-) rs80359626(TCTTA;TCTTA) |
Alt | rs80359626(-;-) rs80359626(TCTTA;TCTTA) |
Reference | Rs80359626(CTTAT;CTTAT) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32915325_32915329delTCTTA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000045068.2, RCV000113656.5, RCV000162934.2, RCV000478267.1, |