Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939711
rs28939711
Entrez Id: 1355;51076
Gene Symbol: COX15;CUTC
COX15;CUTC
CUI: C2748884
Disease:
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		0.010 GeneticVariation BEFREE Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme. 26940873 2016