NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) AND Multiminicore Disease
- Germline classification:
- Likely benign (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:
- RCV000362347.1
Allele description
NM_001042723.2(RYR1):c.2654G>A (p.Arg885His)
Condition(s)
- Name:
- Multiminicore Disease (MmD)
- Synonyms:
- Multiminicore myopathy; RYR1-related myopathy; RYR1-related multiminicore disease
- Identifiers:
- MONDO: MONDO:0018948; MedGen: C2673970
Assertion and evidence details
Last Updated: May 9, 2020