| Variant #0000920519 (NC_000017.10:g.41059578_41059579dup, NM_000151.3:c.379_380dup (G6PC))
        
          | Individual ID | 00433204 |  
          | Chromosome | 17 |  
          | Allele | Maternal (confirmed) |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic (recessive) |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.41059578_41059579dup |  
          | DNA change (hg38) | - |  
          | Published as | 459insTA (130X) |  
          | ISCN | - |  
          | DB-ID | G6PC_000004 See all 9 reported entries |  
          | Variant remarks | - |  
          | Reference | PubMed: Lei 1995 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2023-03-03 15:48:48 +01:00 (CET) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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