NM_001876.4(CPT1A):c.228G>A (p.Lys76=) AND Carnitine palmitoyl transferase 1A deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001400276.6
Allele description [Variation Report for NM_001876.4(CPT1A):c.228G>A (p.Lys76=)]
NM_001876.4(CPT1A):c.228G>A (p.Lys76=)
Condition(s)
- Name:
- Carnitine palmitoyl transferase 1A deficiency
- Synonyms:
- Carnitine palmitoyl transferase 1 deficiency; Carnitine palmitoyltransferase 1A deficiency; CPT1A deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009705; MedGen: C1829703; Orphanet: 156; OMIM: 255120
Assertion and evidence details
Last Updated: Feb 28, 2024