NM_000540.3(RYR1):c.1753A>G (p.Ile585Val) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000209999.4
Allele description [Variation Report for NM_000540.3(RYR1):c.1753A>G (p.Ile585Val)]
NM_000540.3(RYR1):c.1753A>G (p.Ile585Val)
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
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ttc27 tetratricopeptide repeat domain 27 [Danio rerio]
ttc27 tetratricopeptide repeat domain 27 [Danio rerio]Gene ID:317640Gene
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Profile neighbors for GEO Profiles (Select 109433003) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 79255757) (200)
GEO Profiles
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Gene Links for GEO Profiles (Select 109418984) (1)
Gene
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RBM27 RNA binding motif protein 27 [Homo sapiens]
RBM27 RNA binding motif protein 27 [Homo sapiens]Gene ID:54439Gene
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Last Updated: Jun 23, 2024