NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) AND Malignant hyperthermia of anesthesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000357672.5
Allele description [Variation Report for NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)]
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
Condition(s)
- Name:
- Malignant hyperthermia of anesthesia
- Synonyms:
- Hyperthermia of anesthesia
- Identifiers:
- MONDO: MONDO:0018493; MedGen: C0024591
Assertion and evidence details
Last Updated: Mar 10, 2024