rs80356969
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 rs80356969(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43049174 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356969 |
dbSNP (classic) | rs80356969 |
ClinGen | rs80356969 |
ebi | rs80356969 |
HLI | rs80356969 |
Exac | rs80356969 |
Gnomad | rs80356969 |
Varsome | rs80356969 |
LitVar | rs80356969 |
Map | rs80356969 |
PheGenI | rs80356969 |
Biobank | rs80356969 |
1000 genomes | rs80356969 |
hgdp | rs80356969 |
ensembl | rs80356969 |
geneview | rs80356969 |
scholar | rs80356969 |
rs80356969 | |
pharmgkb | rs80356969 |
gwascentral | rs80356969 |
openSNP | rs80356969 |
23andMe | rs80356969 |
SNPshot | rs80356969 |
SNPdbe | rs80356969 |
MSV3d | rs80356969 |
GWAS Ctlg | rs80356969 |
Max Magnitude | 6 |
rs80356969, also known as Q1785X, c.5353C>T and p.Gln1785Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80356969(T;T) |
Alt | rs80356969(T;T) |
Reference | Rs80356969(C;C) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41201191G>A |
CLNSRC | ClinVar |
CLNACC | RCV000048955.3, RCV000077618.5, RCV000223567.1, RCV000236216.1, |