NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) AND Leigh syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000377356.1
Allele description
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
Condition(s)
- Name:
- Leigh syndrome (LS)
- Synonyms:
- Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000
Assertion and evidence details
Last Updated: Apr 22, 2020