rs200484060
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 3 | Likely miscall if from Ancestry data; otherwise, ARVC mutation |
| (G;T) | 3 | Likely miscall if from Ancestry data; otherwise, ARVC mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 18 |
| Position | 31536370 |
| Gene | DSG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200484060 |
| dbSNP (classic) | rs200484060 |
| ClinGen | rs200484060 |
| ebi | rs200484060 |
| HLI | rs200484060 |
| Exac | rs200484060 |
| Gnomad | rs200484060 |
| Varsome | rs200484060 |
| LitVar | rs200484060 |
| Map | rs200484060 |
| PheGenI | rs200484060 |
| Biobank | rs200484060 |
| 1000 genomes | rs200484060 |
| hgdp | rs200484060 |
| ensembl | rs200484060 |
| geneview | rs200484060 |
| scholar | rs200484060 |
| rs200484060 | |
| pharmgkb | rs200484060 |
| gwascentral | rs200484060 |
| openSNP | rs200484060 |
| 23andMe | rs200484060 |
| SNPshot | rs200484060 |
| SNPdbe | rs200484060 |
| MSV3d | rs200484060 |
| GWAS Ctlg | rs200484060 |
| Max Magnitude | 3 |
aka c.1592T>G, p.Phe531Cys and F531C
The rare rs200484060(G) allele is a possible ARVC-related mutation in DSG2 of uncertain pathogenicity (since it's so rare); but when seen in data from Ancestry.com, we believe it to be a likely miscall.
| ClinVar | |
|---|---|
| Risk | Rs200484060(G;G) |
| Alt | Rs200484060(G;G) |
| Reference | Rs200484060(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not specified Arrhythmogenic right ventricular cardiomyopathy Dysplasia |
| Variation | info |
| Gene | DSG2 |
| CLNDBN | not specified Arrhythmogenic right ventricular cardiomyopathy Dysplasia, arrhythmogenic right ventricular |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29116333T>G |
| CLNSRC | Children's Hospital of Eastern Ontario |
| CLNACC | RCV000037268.2, RCV000168632.2, RCV000171833.2, |
