NM_000098.3(CPT2):c.1049G>A (p.Arg350His) AND Carnitine palmitoyl transferase II deficiency, myopathic form
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003453496.1
Allele description [Variation Report for NM_000098.3(CPT2):c.1049G>A (p.Arg350His)]
NM_000098.3(CPT2):c.1049G>A (p.Arg350His)
Condition(s)
- Name:
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Synonyms:
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC; CPT II DEFICIENCY, MYOPATHIC; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009704; MedGen: C1833508; Orphanet: 157; Orphanet: 228302; OMIM: 255110
Assertion and evidence details
Last Updated: Dec 30, 2023