NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003996095.2
Allele description [Variation Report for NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)]
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)
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: Jul 29, 2024