Variant: rs74315511 

    present in Gene: NCAPH2;SCO2
    present in Chromosome: 22
    Position on Chromosome: 50523994
    Alleles of this Variant: C/T

rs74315511 in NCAPH2;SCO2 gene and Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency PMID 17189203 2007 The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

PMID 11673586 2001 Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

PMID 10545952 1999 Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

PMID 25959673 2015 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.

PMID 19353847 2009 A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

PMID 19336478 2009 Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

PMID 14994243 2004 Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.

PMID 10749987 2000 Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

rs74315511 in NCAPH2;SCO2 gene and MYOPIA 6 (disorder) PMID 25959673 2015 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.

PMID 23643385 2013 Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

PMID 25525168 2014 Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.