NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu) 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:
- RCV001580394.2
Allele description [Variation Report for NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)]
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)
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
-
zinc finger protein 516 isoform X1 [Homo sapiens]
zinc finger protein 516 isoform X1 [Homo sapiens]gi|767999524|ref|XP_011524571.1|Protein
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High Grade Prostatic Intraepithelial Neoplasia, Small Cell Neuroendocrine Varian...
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Full text in PMC (nucleotide) for Gene (Select 8398) (100)
PMC
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RBS_HiC_50CHRs - Genome - Assembly - NCBI
RBS_HiC_50CHRs - Genome - Assembly - NCBIAssembly
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Last Updated: May 12, 2024