NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) AND Mitochondrial DNA depletion syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000208631.1
Allele description
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del)
Condition(s)
- Name:
- Mitochondrial DNA depletion syndrome 1
- Synonyms:
- POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011283; MedGen: C4551995; Orphanet: 298; OMIM: 603041
Assertion and evidence details
Last Updated: May 21, 2022