Hypothesis

1 Matching Annotations

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

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
  
  PMID: 12077706
  
  GeneName: GNAT2
  
  HGNC: 4394
  
  Disease: achromatopsia 4
  
  MonDO ID: MONDO_0013465
  
  Inheritance: autosomal recessive
  
  General ClinGen Gene:GNAT2 HGNC:4394 inferred_gene_hgnc:4394 inferred_gene_source:hgnc_tag Retina GCEP
Visit annotations in context

Tags

Retina GCEP

Gene:GNAT2

HGNC:4394

inferred_gene_hgnc:4394

ClinGen

inferred_gene_source:hgnc_tag

General

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC379175/