NM_000540.3(RYR1):c.6897G>C (p.Val2299=) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004006966.2
Allele description [Variation Report for NM_000540.3(RYR1):c.6897G>C (p.Val2299=)]
NM_000540.3(RYR1):c.6897G>C (p.Val2299=)
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
-
phosphoglycerate mutase 1 (brain), isoform CRA_a, partial [Homo sapiens]
phosphoglycerate mutase 1 (brain), isoform CRA_a, partial [Homo sapiens]gi|119570322|gb|EAW49937.1||gnl|WGS |hCP1917485Protein
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phosphoglycerate mutase 1 (brain), isoform CRA_e [Homo sapiens]
phosphoglycerate mutase 1 (brain), isoform CRA_e [Homo sapiens]gi|119570327|gb|EAW49942.1||gnl|WGS |hCP1897295Protein
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|189065433|dbj|BAG35272.1|Protein
-
Homologene neighbors for GEO Profiles (Select 132351126) (0)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 132386270) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024