NM_000540.3(RYR1):c.14364+1G>T AND Malignant hyperthermia of anesthesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001803463.1
Allele description [Variation Report for NM_000540.3(RYR1):c.14364+1G>T]
NM_000540.3(RYR1):c.14364+1G>T
Condition(s)
- Name:
- Malignant hyperthermia of anesthesia
- Synonyms:
- Hyperthermia of anesthesia; Anesthesic-triggered malignant hyperthermia
- Identifiers:
- MONDO: MONDO:0018493; MedGen: C0024591; Human Phenotype Ontology: HP:0034733
Assertion and evidence details
Last Updated: Sep 16, 2024