Variant: rs1555894289 

    present in Gene: CHKB-CPT1B;CPT1B;CHKB
    present in Chromosome: 22
    Position on Chromosome: 50579509
    Alleles of this Variant: T/A;C

rs1555894289 in CHKB-CPT1B;CPT1B;CHKB gene and Muscular Dystrophy, Congenital, Megaconial Type PMID 21665002 2011 A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.