rs276174842
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs276174842(TT;TT) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32338493 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174842 |
dbSNP (classic) | rs276174842 |
ClinGen | rs276174842 |
ebi | rs276174842 |
HLI | rs276174842 |
Exac | rs276174842 |
Gnomad | rs276174842 |
Varsome | rs276174842 |
LitVar | rs276174842 |
Map | rs276174842 |
PheGenI | rs276174842 |
Biobank | rs276174842 |
1000 genomes | rs276174842 |
hgdp | rs276174842 |
ensembl | rs276174842 |
geneview | rs276174842 |
scholar | rs276174842 |
rs276174842 | |
pharmgkb | rs276174842 |
gwascentral | rs276174842 |
openSNP | rs276174842 |
23andMe | rs276174842 |
SNPshot | rs276174842 |
SNPdbe | rs276174842 |
MSV3d | rs276174842 |
GWAS Ctlg | rs276174842 |
Merged from | Rs397507709 |
Max Magnitude | 6 |
rs276174842, also known as 4366insTT, c.4138_4139insTT, c.4139_4140dupTT and p.Ile1380?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs276174842(TT;TT) |
Alt | rs276174842(TT;TT) |
Reference | Rs276174842(-;-) |
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.32912631_32912632dupTT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044359.2, RCV000113279.2, RCV000130775.2, RCV000483206.2, |