NG_008035.1:g.19588T>C NC_000001.11:g.53211016T>C NC_000001.10:g.53676688T>C NP_000089.1:p.(Lys414ThrfsTer7;Phe448Leu)(Q413fx/F448L)
P23786:p.Phe448Leu NP_000089.1:p.Phe448Leu NM_000098.3:c.1342T>C NM_001330589.2:c.1342T>C NM_000098.2:c.1342T>C NP_001317518.1:p.Phe448Leu More...
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01/31/2024 |
missense variant |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other|not provided |
all ages |
AllHighlyPenetrant; Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Carnitine palmitoyltransferase deficiency type 2; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR; Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, late-onset; Carnitine palmitoyltransferase II deficiency, lethal neonatal; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL; CPT II DEFICIENCY, HEPATIC; CPT II deficiency, infantile; CPT II DEFICIENCY, LETHAL NEONATAL; CPT II DEFICIENCY, MYOPATHIC; CPT II deficiency, myopathic, stress-induced; CPT2 DEFICIENCY, INFANTILE; CPT2 DEFICIENCY, LATE-ONSET; CPT2 DEFICIENCY, LETHAL NEONATAL; none provided |