Variant: rs200889953 

    present in Gene: ALPK3
    present in Chromosome: 15
    Position on Chromosome: 84839087
    Alleles of this Variant: C/T

rs200889953 in ALPK3 gene and Hypertrophic Cardiomyopathy PMID 21441111 2012 Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice.

PMID 26846950 2016 Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

PMID 27106955 2016 ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.