Arrhythmogenic Right Ventricular Dysplasia 2(Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome)
An Autosomal dominant, Autosomal recessive mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Cardiovascular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | RYR2/6262 | ryanodine receptor 2 | 1q43 | Chr1, NC_000001.11 (237042184..237833988) |
791805 nt | 107 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TNNI3K/51086 | TNNI3 interacting kinase | 1p31.1 | Chr1, NC_000001.11 (74235387..74544428) |
309042 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities