NM_000098.3(CPT2):c.1851T>C (p.His617=) AND Carnitine palmitoyl transferase II deficiency, myopathic form
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003451513.1
Allele description [Variation Report for NM_000098.3(CPT2):c.1851T>C (p.His617=)]
NM_000098.3(CPT2):c.1851T>C (p.His617=)
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
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Sorex caecutiens voucher NED 234/2007 cytochrome b gene, complete cds; mitochond...
Sorex caecutiens voucher NED 234/2007 cytochrome b gene, complete cds; mitochondrialgi|2727467308|gb|OQ995258.1|Nucleotide
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Last Updated: Oct 8, 2024