NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002484056.8
Allele description [Variation Report for NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)]
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 2
- Identifiers:
- MedGen: C1832931
- Name:
- Catecholaminergic polymorphic ventricular tachycardia 1
- Synonyms:
- VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
- Identifiers:
- MONDO: MONDO:0011484; MedGen: C1631597; Orphanet: 3286; OMIM: 604772
-
Mus musculus RAD50 interactor 1, mRNA (cDNA clone MGC:178829 IMAGE:9053821), com...
Mus musculus RAD50 interactor 1, mRNA (cDNA clone MGC:178829 IMAGE:9053821), complete cdsgi|219841961|gb|BC145267.1|Nucleotide
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Last Updated: Oct 20, 2024