Variant #0000001081 (NC_000011.9:g.5248167delC)
      
      
        
          | Individual ID | 
          00000155 |  
        
          | Chromosome | 
          11 |  
        
          | Allele | 
          Both (homozygous) |  
        
          | Affects function (as reported) | 
          Affects function |  
        
          | Affects function (by curator) | 
          Affects function |  
        
          | Type | 
          Deletion |  
        
          | DNA change (genomic) (Relative to hg19 / GRCh37) | 
          g.5248167delC |  
        
          | Reference | 
          Shang et al |  
        
          | DB-ID | 
          HBB_000007 See all 7 reported entries |  
        
          | Frequency | 
          - |  
        
          | Variant remarks | 
          - |  
        
          | ClassClinical | 
          Pathogenic |  
        
          | Average frequency (gnomAD v.2.1.1) | 
          Retrieve |  
        
          | Owner | 
          Qi Ming |  
        
          | Database submission license | 
          No license selected |  
        
          | Created by | 
          Qi Ming |   
        
      
      
      
  
      
       
      
  
      Variant on transcripts
      
      
      
      
  
      Screenings
       
      
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