NM_000098.3(CPT2):c.57A>G (p.Gly19=) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002837917.2
Allele description [Variation Report for NM_000098.3(CPT2):c.57A>G (p.Gly19=)]
NM_000098.3(CPT2):c.57A>G (p.Gly19=)
Condition(s)
- Name:
- Carnitine palmitoyltransferase II deficiency (CPT2)
- Synonyms:
- Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2
- Identifiers:
- MONDO: MONDO:0015515; MedGen: C0342790
-
Taxonomy Links for Protein (Select 2293644882) (1)
Taxonomy
-
MAG TPA: hypothetical protein [Bacteriophage sp.]
MAG TPA: hypothetical protein [Bacteriophage sp.]gi|2057903913|tpg|DAU46326.1|Protein
-
Taxonomy Links for Protein (Select 2293602720) (1)
Taxonomy
-
Taxonomy Links for Protein (Select 1436205376) (1)
Taxonomy
-
txid1151214[Organism:noexp] (2)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024