rs80359627
From SNPedia
Merged into | rs80359626 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TCTTA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(CTTAT;CTTAT) | 0 | common in clinvar |
(TCTTA;TCTTA) | 0 | common in clinvar |
Make rs80359627(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32341188 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359627 |
dbSNP (classic) | rs80359627 |
ClinGen | rs80359627 |
ebi | rs80359627 |
HLI | rs80359627 |
Exac | rs80359627 |
Gnomad | rs80359627 |
Varsome | rs80359627 |
LitVar | rs80359627 |
Map | rs80359627 |
PheGenI | rs80359627 |
Biobank | rs80359627 |
1000 genomes | rs80359627 |
hgdp | rs80359627 |
ensembl | rs80359627 |
geneview | rs80359627 |
scholar | rs80359627 |
rs80359627 | |
pharmgkb | rs80359627 |
gwascentral | rs80359627 |
openSNP | rs80359627 |
23andMe | rs80359627 |
SNPshot | rs80359627 |
SNPdbe | rs80359627 |
MSV3d | rs80359627 |
GWAS Ctlg | rs80359627 |
Status | Merged into rs80359626 |
Max Magnitude | 6 |
rs80359627, also known as 7061del5, c.6833_6837delTCTTA and p.Ile2278_Leu2279?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80359627(CTTAT;CTTAT) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32915325_32915329delTCTTA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000045068.2, RCV000113656.4, RCV000162934.2, |