| Variant #0000893585 (NC_000017.10:g.41063349_41063351del, NM_000151.3:c.980_982del (G6PC))
        
          | Chromosome | 17 |  
          | 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.41063349_41063351del |  
          | DNA change (hg38) | - |  
          | Published as | G6PC(NM_000151.2):c.980_982delTCT (p.F327del), G6PC1(NM_000151.4):c.980_982delTCT (p.F327del) |  
          | ISCN | - |  
          | DB-ID | G6PC_000044 See all 4 reported entries |  
          | Variant remarks | VKGL data sharing initiative Nederland |  
          | Reference | - |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | CLASSIFICATION record |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | VKGL-NL_Utrecht |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Utrecht |  
          | Date created | 2022-11-01 13:41:49 +01:00 (CET) |  
          | Date last edited | 2023-01-11 15:44:22 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
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