NM_000540.3(RYR1):c.7028-8G>A AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001127568.4
Allele description [Variation Report for NM_000540.3(RYR1):c.7028-8G>A]
NM_000540.3(RYR1):c.7028-8G>A
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
-
NOSTRIN nitric oxide synthase trafficking [Homo sapiens]
NOSTRIN nitric oxide synthase trafficking [Homo sapiens]Gene ID:115677Gene
-
115677[uid] AND (alive[prop]) (1)
Gene
-
GEO Profile Links for Gene (Select 57476) (1713)
GEO Profiles
-
BioProjects for Gene (Select 57476) (4)
BioProject
-
protein Aster-B isoform X6 [Homo sapiens]
protein Aster-B isoform X6 [Homo sapiens]gi|2217283918|ref|XP_047283281.1|Protein
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Last Updated: Sep 29, 2024