NM_000098.3(CPT2):c.726CCT[1] (p.Leu244del) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001225780.8
Allele description [Variation Report for NM_000098.3(CPT2):c.726CCT[1] (p.Leu244del)]
NM_000098.3(CPT2):c.726CCT[1] (p.Leu244del)
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
-
fatty acid elongase [Candida albicans SC5314]
fatty acid elongase [Candida albicans SC5314]gi|68470034|ref|XP_721027.1|Protein
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Chromosome neighbors for GEO Profiles (Select 132088939) (20)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 56889004) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 56922804) (199)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 56884754) (199)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024