rs276174852
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAA;GC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(GC;AAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(GC;GC) | 0 | common in clinvar |
Make rs276174852(AAA;AAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32339420 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174852 |
dbSNP (classic) | rs276174852 |
ClinGen | rs276174852 |
ebi | rs276174852 |
HLI | rs276174852 |
Exac | rs276174852 |
Gnomad | rs276174852 |
Varsome | rs276174852 |
LitVar | rs276174852 |
Map | rs276174852 |
PheGenI | rs276174852 |
Biobank | rs276174852 |
1000 genomes | rs276174852 |
hgdp | rs276174852 |
ensembl | rs276174852 |
geneview | rs276174852 |
scholar | rs276174852 |
rs276174852 | |
pharmgkb | rs276174852 |
gwascentral | rs276174852 |
openSNP | rs276174852 |
23andMe | rs276174852 |
SNPshot | rs276174852 |
SNPdbe | rs276174852 |
MSV3d | rs276174852 |
GWAS Ctlg | rs276174852 |
Max Magnitude | 6 |
rs276174852, also known as 5293delGCinsAAA, c.5065_5066delGCinsAAA and p.Ala1689?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i5010578
ClinVar | |
---|---|
Risk | rs276174852(AAA;AAA) |
Alt | rs276174852(AAA;AAA) |
Reference | Rs276174852(GC;GC) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32913557_32913558delGCinsAAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044546.2, RCV000113372.2, |