NM_000540.3(RYR1):c.7264A>G (p.Ile2422Val) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004011376.2
Allele description [Variation Report for NM_000540.3(RYR1):c.7264A>G (p.Ile2422Val)]
NM_000540.3(RYR1):c.7264A>G (p.Ile2422Val)
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
-
Homo sapiens calpain 1, (mu/I) large subunit, mRNA (cDNA clone MGC:3082 IMAGE:33...
Homo sapiens calpain 1, (mu/I) large subunit, mRNA (cDNA clone MGC:3082 IMAGE:3347480), complete cdsgi|33870595|gb|BC008751.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024