NM_000540.3(RYR1):c.6985G>C (p.Glu2329Gln) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004015338.2
Allele description [Variation Report for NM_000540.3(RYR1):c.6985G>C (p.Glu2329Gln)]
NM_000540.3(RYR1):c.6985G>C (p.Glu2329Gln)
Condition(s)
- 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
Assertion and evidence details
Last Updated: May 7, 2024