rs80357653
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs80357653(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43070980 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357653 |
dbSNP (classic) | rs80357653 |
ClinGen | rs80357653 |
ebi | rs80357653 |
HLI | rs80357653 |
Exac | rs80357653 |
Gnomad | rs80357653 |
Varsome | rs80357653 |
LitVar | rs80357653 |
Map | rs80357653 |
PheGenI | rs80357653 |
Biobank | rs80357653 |
1000 genomes | rs80357653 |
hgdp | rs80357653 |
ensembl | rs80357653 |
geneview | rs80357653 |
scholar | rs80357653 |
rs80357653 | |
pharmgkb | rs80357653 |
gwascentral | rs80357653 |
openSNP | rs80357653 |
23andMe | rs80357653 |
SNPshot | rs80357653 |
SNPdbe | rs80357653 |
MSV3d | rs80357653 |
GWAS Ctlg | rs80357653 |
Merged from | Rs80357705 |
Max Magnitude | 6 |
rs80357653, also known as 5053delG, c.4934_4934delG and p.Arg1645=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357653(-;-) |
Alt | rs80357653(-;-) |
Reference | Rs80357653(G;G) |
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.41222995delC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048699.3, RCV000112428.3, RCV000130668.3, RCV000236929.2, |