| Variant #0000727698 (NC_000020.10:g.44048986C>T, NM_015937.5:c.784C>T (PIGT))
        
          | Chromosome | 20 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Effect unknown |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | VUS |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.44048986C>T |  
          | DNA change (hg38) | - |  
          | Published as | PIGT(NM_015937.6):c.784C>T (p.R262W) |  
          | ISCN | - |  
          | DB-ID | PIGT_000045 |  
          | 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) | 5.0E-5 View details |  
          | Owner | VKGL-NL_Groningen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Groningen |  
          | Date created | 2021-02-08 18:36:18 +01:00 (CET) |  
          | Date last edited | 2021-09-17 14:40:49 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
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