Variant: rs1057517477 

    present in Gene: CPT2
    present in Chromosome: 1
    Position on Chromosome: 53211219
    Alleles of this Variant: CTTT/-

rs1057517477 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE PMID 11855939 2002 A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.

rs1057517477 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET PMID 11855939 2002 A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.

rs1057517477 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL PMID 11855939 2002 A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.