NM_001876.4(CPT1A):c.279G>A (p.Thr93=) AND Carnitine palmitoyl transferase 1A deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002628890.2
Allele description [Variation Report for NM_001876.4(CPT1A):c.279G>A (p.Thr93=)]
NM_001876.4(CPT1A):c.279G>A (p.Thr93=)
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
-
LOC126863108 [Homo sapiens]
LOC126863108 [Homo sapiens]Gene ID:126863108Gene
-
LOC130067238 [Homo sapiens]
LOC130067238 [Homo sapiens]Gene ID:130067238Gene
-
LOC112695084 [Homo sapiens]
LOC112695084 [Homo sapiens]Gene ID:112695084Gene
-
LOC130067122 [Homo sapiens]
LOC130067122 [Homo sapiens]Gene ID:130067122Gene
-
LOC130067295 [Homo sapiens]
LOC130067295 [Homo sapiens]Gene ID:130067295Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024