NM_000098.3(CPT2):c.339G>A (p.Ser113=) AND Carnitine palmitoyl transferase II deficiency, neonatal 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:
- RCV003453690.1
Allele description [Variation Report for NM_000098.3(CPT2):c.339G>A (p.Ser113=)]
NM_000098.3(CPT2):c.339G>A (p.Ser113=)
Condition(s)
- Name:
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Synonyms:
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL; CPT II DEFICIENCY, LETHAL NEONATAL; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012136; MedGen: C1833518; Orphanet: 228308; OMIM: 608836
Assertion and evidence details
Last Updated: Dec 30, 2023