RS368311455 CPT2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyl transferase II deficiency
severe infantile form
Encephalopathy
acute
infection-induced
susceptibility to
4
Autosomal recessive CPT2-related disorders
Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyl transferase II deficiency
severe infantile form
Encephalopathy
acute
infection-induced
Other Variants in CPT2