Variant #0000001086 (NC_000011.9:g.5246716A>G)
      
      
        
          | Individual ID | 
          00000485, 00001132, 00001809 |  
        
          | Chromosome | 
          11 |  
        
          | Allele | 
          Parent #1 |  
        
          | Affects function (as reported) | 
          Affects function |  
        
          | Affects function (by curator) | 
          Not classified |  
        
          | Type | 
          Substitution |  
        
          | DNA change (genomic) (Relative to hg19 / GRCh37) | 
          g.5246716A>G |  
        
          | Reference | 
          (OMIM 0386);dbSNP;Jankovic L et al.; |  
        
          | DB-ID | 
          chr11_000665 |  
        
          | Frequency | 
          - |  
        
          | Variant remarks | 
          Poly A (A->G); AATAAA->AATAGA beta+ |  
        
          | ClassClinical | 
          Pathogenic |  
        
          | Average frequency (gnomAD v.2.1.1) | 
          Genomic location of variant could not be determined |  
        
          | Owner | 
          Qi Ming |  
        
          | Database submission license | 
          No license selected |  
        
          | Created by | 
          Qi Ming |   
      
  
      
       
      
  
      Variant on transcripts
      
      
      
      
  
      Screenings
       
      
     | 
   
 
 
 
 |