NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) AND Malignant hyperthermia of anesthesia
- Germline classification:
- Likely benign (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:
- RCV000403046.5
Allele description [Variation Report for NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)]
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)
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
-
homoserine kinase [Cucumis melo]
homoserine kinase [Cucumis melo]gi|659100683|ref|XP_008451216.1|Protein
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Last Updated: Sep 16, 2024