NM_000098.3(CPT2):c.1850A>G (p.His617Arg) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001365962.4
Allele description
NM_000098.3(CPT2):c.1850A>G (p.His617Arg)
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: Dec 30, 2023