NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) AND Malignant hyperthermia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 11, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000211448.2
Allele description
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
Condition(s)
- Name:
- Malignant hyperthermia
- Identifiers:
- MedGen: CN209346; Human Phenotype Ontology: HP:0002047
Assertion and evidence details
Last Updated: Mar 23, 2022