| Variant #0000895370 (NC_000020.10:g.5282878G>A, NM_144773.2:c.963C>T (PROKR2))
        
          | Chromosome | 20 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.5282878G>A |  
          | DNA change (hg38) | - |  
          | Published as | PROKR2(NM_144773.4):c.963C>T (p.I321=) |  
          | ISCN | - |  
          | DB-ID | PROKR2_000033 |  
          | 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) | 7.0E-5 View details |  
          | Owner | VKGL-NL_AMC |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_AMC |  
          | 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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