|   
  
    | Variant #0000916124 (NC_000004.11:g.47973036G>A, NM_001142564.1:c.82C>T (CNGA1))
        
          | Individual ID | 00429728 |  
          | Chromosome | 4 |  
          | Allele | Parent #1 |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.47973036G>A |  
          | DNA change (hg38) | - |  
          | Published as | c.82C>T |  
          | ISCN | - |  
          | DB-ID | CNGA1_000123 |  
          | Variant remarks | - |  
          | Reference | PubMed: Panneman 2023 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Unknown |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Daan Panneman |  
          | Database submission license | Creative Commons Attribution 4.0 International   |  
          | Created by | Julia Lopez |  
          | Date created | 2023-01-11 18:53:49 +01:00 (CET) |  
          | Date last edited | 2025-04-07 13:47:04 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
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