rs80357432
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80357432(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43057069 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357432 |
dbSNP (classic) | rs80357432 |
ClinGen | rs80357432 |
ebi | rs80357432 |
HLI | rs80357432 |
Exac | rs80357432 |
Gnomad | rs80357432 |
Varsome | rs80357432 |
LitVar | rs80357432 |
Map | rs80357432 |
PheGenI | rs80357432 |
Biobank | rs80357432 |
1000 genomes | rs80357432 |
hgdp | rs80357432 |
ensembl | rs80357432 |
geneview | rs80357432 |
scholar | rs80357432 |
rs80357432 | |
pharmgkb | rs80357432 |
gwascentral | rs80357432 |
openSNP | rs80357432 |
23andMe | rs80357432 |
SNPshot | rs80357432 |
SNPdbe | rs80357432 |
MSV3d | rs80357432 |
GWAS Ctlg | rs80357432 |
Max Magnitude | 6 |
rs80357432, also known as E1754X, c.5260G>T and p.Glu1754Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357432(A;A) rs80357432(C;C) rs80357432(T;T) |
Alt | rs80357432(A;A) rs80357432(C;C) rs80357432(T;T) |
Reference | Rs80357432(G;G) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41209086C>A; NC_000017.10:g.41209086C>T |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000048891.3, RCV000112584.3, RCV000168521.2, |