Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939711
rs28939711
0.710 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

dbSNP: rs28939711
rs28939711
0.710 GeneticVariation UNIPROT Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. 15863660

2005

dbSNP: rs28939711
rs28939711
0.710 GeneticVariation UNIPROT Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026

2004