NM_004614.5(TK2):c.692C>T (p.Pro231Leu) AND Mitochondrial DNA depletion syndrome, myopathic form
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002246774.1
Allele description [Variation Report for NM_004614.5(TK2):c.692C>T (p.Pro231Leu)]
NM_004614.5(TK2):c.692C>T (p.Pro231Leu)
Condition(s)
- Name:
- Mitochondrial DNA depletion syndrome, myopathic form (MTDPS2)
- Synonyms:
- MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED; Mitochondrial DNA depletion syndrome 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012301; MedGen: C3149750; Orphanet: 254875; OMIM: 609560
Assertion and evidence details
Last Updated: Dec 24, 2023