rs276174814
From SNPedia
Merged into | rs276174813 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CTTAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TTTAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(ATCTT;ATCTT) | 0 | common in clinvar |
(CTTAT;CTTAT) | 0 | common in clinvar |
Make rs276174814(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32333274 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174814 |
dbSNP (classic) | rs276174814 |
ClinGen | rs276174814 |
ebi | rs276174814 |
HLI | rs276174814 |
Exac | rs276174814 |
Gnomad | rs276174814 |
Varsome | rs276174814 |
LitVar | rs276174814 |
Map | rs276174814 |
PheGenI | rs276174814 |
Biobank | rs276174814 |
1000 genomes | rs276174814 |
hgdp | rs276174814 |
ensembl | rs276174814 |
geneview | rs276174814 |
scholar | rs276174814 |
rs276174814 | |
pharmgkb | rs276174814 |
gwascentral | rs276174814 |
openSNP | rs276174814 |
23andMe | rs276174814 |
SNPshot | rs276174814 |
SNPdbe | rs276174814 |
MSV3d | rs276174814 |
GWAS Ctlg | rs276174814 |
Status | Merged into rs276174813 |
Max Magnitude | 6 |
rs276174814, also known as 2024del5, c.1796_1800delTTTAT and p.Ser599_Tyr600?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs276174814(ATCTT;ATCTT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32907411_32907415delCTTAT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031337.7, RCV000043887.5, RCV000129987.3, RCV000168232.3, |