NM_001876.4(CPT1A):c.967+3G>A AND Carnitine palmitoyl transferase 1A deficiency
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000553044.12
Allele description [Variation Report for NM_001876.4(CPT1A):c.967+3G>A]
NM_001876.4(CPT1A):c.967+3G>A
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
-
Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF),...
Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3, mRNA (cDNA clone IMAGE:3528075), partial cdsgi|40226334|gb|BC021255.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024