| Variant #0000499797 (NC_000017.10:g.41063252C>T, NM_000151.3:c.883C>T (G6PC))
        
          | Individual ID | 00245846 |  
          | Chromosome | 17 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Effect unknown |  
          | Affects function (by curator) | Effect unknown |  
          | Classification method | - |  
          | Clinical classification | VUS |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.41063252C>T |  
          | DNA change (hg38) | g.42911235C>T |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | G6PC_000003 See all 3 reported entries |  
          | Variant remarks | - |  
          | Reference | - |  
          | ClinVar ID | - |  
          | dbSNP ID | rs104894563 |  
          | Origin | Unknown |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 1.0E-5 View details |  
          | Owner | LOVD |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2012-01-21 12:43:46 +01:00 (CET) |  
          | Date last edited | 2021-09-09 14:41:03 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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