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CDH2

From SNPedia
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# SNPs7
 Max MagnitudeChromosome positionSummary
rs1108324127,971,997
rs114837428,070,318
rs1156438628,120,827
rs1260566228,171,702
rs2298574027,989,094
rs53907528,033,475
rs808745728,037,661

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)