| Chromosome | 
          2 | 
        
          | 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.198265173T>A | 
        
          | DNA change (hg38) | 
          g.197400449T>A | 
        
          | Published as | 
          SF3B1(NM_012433.4):c.2719-15A>T | 
        
          | ISCN | 
          - | 
        
          | DB-ID | 
          SF3B1_000003 | 
        
          | 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) | 
          0.65408 View details | 
        
          | Owner | 
          VKGL-NL_Groningen | 
        
          | Database submission license | 
          Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   | 
        
          | Created by | 
          VKGL-NL_Groningen | 
        
          | Date created | 
          2018-01-15 20:58:59 +01:00 (CET) | 
        
          | Date last edited | 
          2025-11-01 13:22:20 +01:00 (CET) |