NM_000098.3(CPT2):c.432G>A (p.Glu144=) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003740772.1
Allele description [Variation Report for NM_000098.3(CPT2):c.432G>A (p.Glu144=)]
NM_000098.3(CPT2):c.432G>A (p.Glu144=)
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
-
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LOC4330709 [Oryza sativa Japonica Group]
LOC4330709 [Oryza sativa Japonica Group]Gene ID:4330709Gene
-
fut11 fucosyltransferase 11 (alpha (1,3) fucosyltransferase) [Danio rerio]
fut11 fucosyltransferase 11 (alpha (1,3) fucosyltransferase) [Danio rerio]Gene ID:568888Gene
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Last Updated: Feb 28, 2024