CDH2
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | CDH2 |
| GeneCards | CDH2 |
| Diseases | CDH2 |
| wikipedia | CDH2 |
| CDH2 | |
| gopubmed | CDH2 |
| EVS | CDH2 |
| HEFalMp | CDH2 |
| MyGene2 | CDH2 |
| 23andMe | CDH2 |
| # SNPs | 7 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs11083241 | 0 | 27,971,997 | |
| rs1148374 | 0 | 28,070,318 | |
| rs11564386 | 0 | 28,120,827 | |
| rs12605662 | 0 | 28,171,702 | |
| rs2298574 | 0 | 27,989,094 | |
| rs539075 | 0 | 28,033,475 | |
| rs8087457 | 0 | 28,037,661 |
The CDH2 gene located on chromosome 18 encodes the cadherin 2 protein.
A 2017 report concludes that certain CDH2 mutations cause arrhythmogenic right ventricle cardiomyopathy (ARVC), a genetic disorder that predisposes patients to cardiac arrest and is a major cause of unexpected death in seemingly healthy young people.10.1161/CIRCGENETICS.116.001605
Currently lacking dbSNP rs-identifiers, the two mutations reported are:
- c.686A>C, p.Gln229Pro
- c.1219G>A, p.Asp407Asn
- (note: the reference sequence used for this naming/numbering is unclear)
