NM_001876.4(CPT1A):c.1352+1G>C AND Carnitine palmitoyl transferase 1A deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003752285.2
Allele description [Variation Report for NM_001876.4(CPT1A):c.1352+1G>C]
NM_001876.4(CPT1A):c.1352+1G>C
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
-
JGI_CAAQ5749.rev NIH_XGC_tropHrt1 Xenopus tropicalis cDNA clone IMAGE:7726200 3'...
JGI_CAAQ5749.rev NIH_XGC_tropHrt1 Xenopus tropicalis cDNA clone IMAGE:7726200 3', mRNA sequencegi|58848976|gnl|dbEST|27715573|gb|D 36.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024