rs11571658
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TT;TT) | 0 | common in clinvar |
Make rs11571658(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32340630 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs11571658 |
dbSNP (classic) | rs11571658 |
ClinGen | rs11571658 |
ebi | rs11571658 |
HLI | rs11571658 |
Exac | rs11571658 |
Gnomad | rs11571658 |
Varsome | rs11571658 |
LitVar | rs11571658 |
Map | rs11571658 |
PheGenI | rs11571658 |
Biobank | rs11571658 |
1000 genomes | rs11571658 |
hgdp | rs11571658 |
ensembl | rs11571658 |
geneview | rs11571658 |
scholar | rs11571658 |
rs11571658 | |
pharmgkb | rs11571658 |
gwascentral | rs11571658 |
openSNP | rs11571658 |
23andMe | rs11571658 |
SNPshot | rs11571658 |
SNPdbe | rs11571658 |
MSV3d | rs11571658 |
GWAS Ctlg | rs11571658 |
Max Magnitude | 6 |
rs11571658, also known as 6503delTT, c.6275_6276delTT and p.Leu2092Profs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs11571658(-;-) |
Alt | rs11571658(-;-) |
Reference | Rs11571658(TT;TT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32914767_32914768delTT |
CLNSRC | Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
CLNACC | RCV000009903.14, RCV000044884.7, RCV000131029.4, RCV000160300.3, |