NM_001876.4(CPT1A):c.2149G>A (p.Asp717Asn) AND Carnitine palmitoyl transferase 1A deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002741757.3
Allele description [Variation Report for NM_001876.4(CPT1A):c.2149G>A (p.Asp717Asn)]
NM_001876.4(CPT1A):c.2149G>A (p.Asp717Asn)
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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RNA-OvaryPart_Adult_To-R2
RNA-OvaryPart_Adult_To-R2biosample
-
ATP synthase F0 subunit a (mitochondrion) [Centroceras gasparrinii]
ATP synthase F0 subunit a (mitochondrion) [Centroceras gasparrinii]gi|2666692898|ref|YP_011017678.1|Protein
-
cytochrome c oxidase subunit 1 (mitochondrion) [Centroceras gasparrinii]
cytochrome c oxidase subunit 1 (mitochondrion) [Centroceras gasparrinii]gi|2666692881|ref|YP_011017661.1|Protein
-
succinate dehydrogenase subunit 3 (mitochondrion) [Centroceras gasparrinii]
succinate dehydrogenase subunit 3 (mitochondrion) [Centroceras gasparrinii]gi|2666692888|ref|YP_011017668.1|Protein
-
Chlamydia trachomatis strain L2/Hefty/ct054::Tn chromosome, complete genome
Chlamydia trachomatis strain L2/Hefty/ct054::Tn chromosome, complete genomegi|2037206257|ref|NZ_CP035761.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024