Variant: rs148059333

present in Gene: CPT1A present in Chromosome: 11 Position on Chromosome: 68784814 Alleles of this Variant: C/T

rs148059333 in CPT1A gene and Carnitine palmitoyl transferase 1A deficiency PMID 27066452 2016 Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.