NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002507180.1
Allele description [Variation Report for NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)]
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)
Condition(s)
- Name:
- Central core myopathy (CMYO1A)
- Synonyms:
- Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000
- Name:
- Malignant hyperthermia, susceptibility to, 1 (MHS1)
- Synonyms:
- Anesthesia related hyperthermia; Malignant hyperpyrexia; Fulminating hyperpyrexia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007783; MedGen: C2930980; Orphanet: 423; OMIM: 145600
- Name:
- Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)
- Synonyms:
- MULTICORE MYOPATHY; Minicore myopathy with external ophthalmoplegia; Multicore myopathy with external ophthalmoplegia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009712; MedGen: C1850674; Orphanet: 598; OMIM: 255320; Human Phenotype Ontology: HP:0003789
Assertion and evidence details
Last Updated: Sep 29, 2024