|   
  
    | Variant #0000132422 (NC_000023.10:g.100629525_100641213del, NM_000061.2:c.-193_240del (BTK))
        
          | Individual ID | 00081614 |  
          | Chromosome | X |  
          | Allele | Unknown |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Affects function |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.100629525_100641213del |  
          | DNA change (hg38) | g.101374537_101386225del |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | BTK_000777 |  
          | Variant remarks | Deletion of exon 1 to exon 3 |  
          | Reference | PubMed: Singh 2016, IDbase_AccNr: A1609 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Unknown |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Qing Wang |  
          | Database submission license | Creative Commons Attribution-ShareAlike 4.0 International   |  
          | Created by | Qing Wang |  
          | Date created | 2016-10-06 13:12:45 +02:00 (CEST) |  
          | Date last edited | 2021-07-01 08:54:06 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
 |  
 
    Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
    Use our APIs  to retrieve data.
 |