NM_001876.4(CPT1A):c.192C>T (p.Ile64=) AND Carnitine palmitoyl transferase 1A deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000904647.8
Allele description [Variation Report for NM_001876.4(CPT1A):c.192C>T (p.Ile64=)]
NM_001876.4(CPT1A):c.192C>T (p.Ile64=)
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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hypothetical protein PTSG_04007 [Salpingoeca rosetta]
hypothetical protein PTSG_04007 [Salpingoeca rosetta]gi|326437829|gb|EGD83399.1||gnl|WGS |PTSG_04007T0Protein
-
Homo sapiens naked cuticle homolog 1 (Drosophila), mRNA (cDNA clone MGC:59666 IM...
Homo sapiens naked cuticle homolog 1 (Drosophila), mRNA (cDNA clone MGC:59666 IMAGE:6646089), complete cdsgi|30410965|gb|BC051288.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024