Hypothesis

1 Matching Annotations

Last 7 days
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  1433M10White++20/40020/8001.301.60NRNRp.W31*p.P1380L
  
  p.W31X in trans with p.P1380L
  
  CaseInfo Individual Variant:93G>A CA341286738 inferred_gene_hgnc:34 inferred_gene_source:CAID UNC Biocuration Core
Visit annotations in context

Tags

inferred_gene_hgnc:34

Variant:93G>A

inferred_gene_source:CAID

Individual

UNC Biocuration Core

CA341286738

CaseInfo

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5846118/