Variant: rs72549407 

    present in Gene: FAM126A
    present in Chromosome: 7
    Position on Chromosome: 22978444
    Alleles of this Variant: A/C;G

rs72549407 in FAM126A gene and HYPOMYELINATION AND CONGENITAL CATARACT PMID 16951682 2006 Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

PMID 23998934 2013 Novel FAM126A mutations in hypomyelination and congenital cataract disease.

PMID 21911699 2011 Hypomyelination and congenital cataract: broadening the clinical phenotype.

PMID 26571211 2016 The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.