NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002281943.8
Allele description [Variation Report for NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)]
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
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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"29706-85-2"[CompleteSynonym] (4)
PubChem Compound
-
Cited in PMC for PubMed (Select 30607345) (3)
PMC
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PREDICTED: Mus musculus predicted gene, 31718 (Gm31718), transcript variant X4, ...
PREDICTED: Mus musculus predicted gene, 31718 (Gm31718), transcript variant X4, ncRNAgi|1039791634|ref|XR_388221.3|Nucleotide
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Francisella noatunensis strain FSC1157 FSC1157_57_len16156, whole genome shotgun...
Francisella noatunensis strain FSC1157 FSC1157_57_len16156, whole genome shotgun sequencegi|1956170468|ref|NZ_JACVLD01000005 gnl|WGS:NZ_JACVLD01|FSC1157_57_len16156Nucleotide
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Francisella noatunensis strain FSC1157 FSC1157_89_len8238, whole genome shotgun ...
Francisella noatunensis strain FSC1157 FSC1157_89_len8238, whole genome shotgun sequencegi|1956170500|ref|NZ_JACVLD01000009 gnl|WGS:NZ_JACVLD01|FSC1157_89_len8238Nucleotide
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Last Updated: Aug 25, 2024