| Variant #0000874712 (NC_000015.9:g.31862287G>A, NM_001382637.1:c.265C>T (OTUD7A))
        
          | Individual ID | 00415293 |  
          | Chromosome | 15 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.31862287G>A |  
          | DNA change (hg38) | g.31570084G>A |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | OTUD7A_000003 |  
          | Variant remarks | - |  
          | Reference | PubMed: Kozlova 2022, Journal: Kozlova 2022 |  
          | ClinVar ID | - |  
          | dbSNP ID | rs757148409 |  
          | Origin | Germline/De novo (untested) |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 1.0E-5 View details |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2022-08-11 09:32:04 +02:00 (CEST) |  
          | Date last edited | 2022-08-11 09:36:10 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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