NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004008990.2
Allele description [Variation Report for NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn)]
NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn)
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
-
PREDICTED: Homo sapiens calcium regulated heat stable protein 1 (CARHSP1), trans...
PREDICTED: Homo sapiens calcium regulated heat stable protein 1 (CARHSP1), transcript variant X1, mRNAgi|2217305356|ref|XM_011522444.3|Nucleotide
-
enoyl-CoA hydratase/isomerase family protein [Sedimenticola selenatireducens]
enoyl-CoA hydratase/isomerase family protein [Sedimenticola selenatireducens]gi|656110448|ref|WP_029133981.1|Protein
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Last Updated: Sep 29, 2024