NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002491324.8
Allele description [Variation Report for NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)]
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
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
-
SRX4236158 (1)
SRA
-
Chain AAA, Eukaryotic translation initiation factor 2-alpha kinase 3,Eukaryotic ...
Chain AAA, Eukaryotic translation initiation factor 2-alpha kinase 3,Eukaryotic translation initiation factor 2-alpha kinase 3gi|2043689264|pdb|7MF0|AAAProtein
-
Rattus norvegicus mouse zinc finger protein 14-like, mRNA (cDNA clone IMAGE:7131...
Rattus norvegicus mouse zinc finger protein 14-like, mRNA (cDNA clone IMAGE:7131296), complete cdsgi|118764096|gb|BC128772.1|Nucleotide
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Last Updated: Sep 16, 2024