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ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  [Arg211∗; Thr520Ile
  
  Variant 1: CA8401572 Variant 2: ClinVar ID: 66035
  
  Individual Variant inferred_gene_hgnc:14198 inferred_gene_source:CAID UNC Biocuration Core
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UNC Biocuration Core

Variant

inferred_gene_source:CAID

Individual

inferred_gene_hgnc:14198

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ClingenBaseline

URL

sciencedirect.com/science/article/pii/S0002929713002759