NM_000098.3(CPT2):c.1121G>A (p.Trp374Ter) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003582699.1
Allele description [Variation Report for NM_000098.3(CPT2):c.1121G>A (p.Trp374Ter)]
NM_000098.3(CPT2):c.1121G>A (p.Trp374Ter)
Condition(s)
- Name:
- Carnitine palmitoyltransferase II deficiency (CPT2)
- Synonyms:
- Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2
- Identifiers:
- MONDO: MONDO:0015515; MedGen: C0342790
Assertion and evidence details
Last Updated: Feb 20, 2024