NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626708.3
Allele description [Variation Report for NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)]
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
Condition(s)
- Name:
- Elevated circulating creatine kinase concentration
- Synonyms:
- HYPERCKEMIA, IDIOPATHIC; Elevated serum creatine phosphokinase; CAV3-Related Isolated HyperCKemia
- Identifiers:
- MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236
- Name:
- Myalgia
- Identifiers:
- MedGen: C0231528; Human Phenotype Ontology: HP:0003326
- Name:
- Exercise-induced myalgia
- Identifiers:
- MedGen: C1850830; Human Phenotype Ontology: HP:0003738
Assertion and evidence details
Last Updated: Nov 10, 2024