NM_001876.4(CPT1A):c.147C>G (p.Gly49=) AND Carnitine palmitoyl transferase 1A deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000639507.9
Allele description [Variation Report for NM_001876.4(CPT1A):c.147C>G (p.Gly49=)]
NM_001876.4(CPT1A):c.147C>G (p.Gly49=)
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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Protein transport protein Sec61 subunit gamma, partial [Cucurbita argyrosperma s...
Protein transport protein Sec61 subunit gamma, partial [Cucurbita argyrosperma subsp. sororia]gi|2047911347|gb|KAG6584155.1||gnl| AGKQH|SDJN03_20087Protein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024