Genomic Feature
            hg128
                
                    
                        Notes
                    
                    
                
                
            
        
        
    
        
            
            
    
        
    | Comment | Citation | 
|---|---|
| Deletion 8 bp in exon 1, cDNA: 130delCCGTTGC, p. Pro44Leufs*31 | Hong et al., 2020 | 
                
                    
                        Variants
                    
                    
                
                
            
        
        
    
        
            
            
- Variant Type
 - Small Deletion
 - Variant Location
 - Chr: 2 Details
 - Nucleotide change
 - Variant Notes
 - None
 
                
                    
                        Effect on DNA/cDNA, transcript, protein (from publications)
                    
                    
                
                
            
        
        
    
        
            
                
- DNA/cDNA Change
 - 8 bp deleted in Exon 1 (1)
 - Transcript Consequence
 - Frameshift (1)
 - Protein Consequence
 - Amino Acid Substitution: Pro>Leu at position 44 (1)
 
- Flanking Sequence
 - None
 - Additional Sequence
 - None
 
                
                    
                        Fish
                    
                    
                
                
            
        
        
    
        
            
            
        
        
    
    
    
                
                    
                        Supplemental Information
                    
                    
                
                
            
        
        
    
        
            
            
    
- Genotyping protocol
 - None