NM_000098.3(CPT2):c.1645+2T>G AND Carnitine palmitoyl transferase II deficiency, myopathic form
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000411662.2
Allele description [Variation Report for NM_000098.3(CPT2):c.1645+2T>G]
NM_000098.3(CPT2):c.1645+2T>G
Condition(s)
- Name:
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Synonyms:
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC; CPT II DEFICIENCY, MYOPATHIC; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009704; MedGen: C1833508; Orphanet: 157; Orphanet: 228302; OMIM: 255110
-
KHDC4 [Bubalus bubalis]
KHDC4 [Bubalus bubalis]Gene ID:102396539Gene
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Last Updated: Jun 10, 2023