rs80356864
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80356864(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43106508 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356864 |
dbSNP (classic) | rs80356864 |
ClinGen | rs80356864 |
ebi | rs80356864 |
HLI | rs80356864 |
Exac | rs80356864 |
Gnomad | rs80356864 |
Varsome | rs80356864 |
LitVar | rs80356864 |
Map | rs80356864 |
PheGenI | rs80356864 |
Biobank | rs80356864 |
1000 genomes | rs80356864 |
hgdp | rs80356864 |
ensembl | rs80356864 |
geneview | rs80356864 |
scholar | rs80356864 |
rs80356864 | |
pharmgkb | rs80356864 |
gwascentral | rs80356864 |
openSNP | rs80356864 |
23andMe | rs80356864 |
SNPshot | rs80356864 |
SNPdbe | rs80356864 |
MSV3d | rs80356864 |
GWAS Ctlg | rs80356864 |
Max Magnitude | 6 |
rs80356864, also known as Q54X, c.160C>T and p.Gln54Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80356864(A;A) rs80356864(T;T) |
Alt | rs80356864(A;A) rs80356864(T;T) |
Reference | Rs80356864(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41258525G>A; NC_000017.10:g.41258525G>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000047539.2, RCV000111916.3, RCV000131840.2, RCV000077076.2, |