NM_000098.3(CPT2):c.939G>A (p.Glu313=) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003582190.1
Allele description [Variation Report for NM_000098.3(CPT2):c.939G>A (p.Glu313=)]
NM_000098.3(CPT2):c.939G>A (p.Glu313=)
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
-
Orculidae 16S ribosomal RNA gene, partial sequence; mitochondrial.
Orculidae 16S ribosomal RNA gene, partial sequence; mitochondrial.PopSet: 695203022PopSet
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024