NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn) 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:
- RCV004004753.2
Allele description [Variation Report for NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn)]
NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn)
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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Fasciola hepatica 5 days incubated eggs C
Fasciola hepatica 5 days incubated eggs Cbiosample
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Homo sapiens coiled-coil domain containing 66, mRNA (cDNA clone MGC:164458 IMAGE...
Homo sapiens coiled-coil domain containing 66, mRNA (cDNA clone MGC:164458 IMAGE:40146849), complete cdsgi|124376597|gb|BC132827.1|Nucleotide
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synphilin-1 isoform B [Homo sapiens]
synphilin-1 isoform B [Homo sapiens]gi|809281443|ref|NP_001295034.1|Protein
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Last Updated: May 19, 2024