NM_000540.3(RYR1):c.6585G>A (p.Pro2195=) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004002999.2
Allele description [Variation Report for NM_000540.3(RYR1):c.6585G>A (p.Pro2195=)]
NM_000540.3(RYR1):c.6585G>A (p.Pro2195=)
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: Aythya fuligula carbohydrate sulfotransferase 11 (CHST11), transcript...
PREDICTED: Aythya fuligula carbohydrate sulfotransferase 11 (CHST11), transcript variant X1, mRNAgi|1802819753|ref|XM_032194672.1|Nucleotide
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Last Updated: Oct 13, 2024