NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001592885.3
Allele description [Variation Report for NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)]
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
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
-
SLC11A1 [Cebus imitator]
SLC11A1 [Cebus imitator]Gene ID:108309053Gene
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Last Updated: Sep 8, 2024