NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Sep 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000282044.6
Allele description [Variation Report for NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)]
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
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
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|30577057|emb|CAD91050.1|Protein
-
nuclear receptor ROR-gamma isoform X1 [Rattus norvegicus]
nuclear receptor ROR-gamma isoform X1 [Rattus norvegicus]gi|1046875337|ref|XP_017446802.1|Protein
-
tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X3 [Homo sapiens]
tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X3 [Homo sapiens]gi|2462587169|ref|XP_054201227.1|Protein
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Last Updated: Oct 8, 2024