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    | Variant #0000792323 (NC_000010.10:g.95372567C>T, NM_006204.3:c.85C>T (PDE6C))
        
          | Individual ID | 00378005 |  
          | Chromosome | 10 |  
          | Allele | Unknown |  
          | 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.95372567C>T |  
          | DNA change (hg38) | - |  
          | Published as | c.85C>T |  
          | ISCN | - |  
          | DB-ID | PDE6C_000078 See all 12 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: Thiadens_2012 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Unknown |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 2.0E-5 View details |  
          | Owner | LOVD |  
          | Database submission license | Creative Commons Attribution 4.0 International   |  
          | Created by | Julia Lopez |  
          | Date created | 2021-08-02 20:37:33 +02:00 (CEST) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
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