NM_001876.4(CPT1A):c.247A>G (p.Ile83Val) AND Carnitine palmitoyl transferase 1A deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001278071.3
Allele description [Variation Report for NM_001876.4(CPT1A):c.247A>G (p.Ile83Val)]
NM_001876.4(CPT1A):c.247A>G (p.Ile83Val)
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
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US pharmacists' effect as team members on patient care: systematic review and meta-analyses - Database of Abstracts of Reviews of Effects (DARE): Quality-assessed Reviews
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Last Updated: Sep 29, 2024