| Variant #0000084504 (NC_000023.10:g.(?_100641212)_(100604435_?)del, NM_000061.2:c.(?_-193)_(*438_?)del (BTK))
        
          | Individual ID | 00054616 |  
          | 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.(?_100641212)_(100604435_?)del |  
          | DNA change (hg38) | - |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | BTK_000891 See all 4 reported entries |  
          | Variant remarks | Large undefined deletion |  
          | Reference | PubMed: Vetrie 1993, IDbase_AccNr: A0005 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Gerard C.P. Schaafsma |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Gerard C.P. Schaafsma |  
          | Date created | 2015-10-23 11:09:15 +02:00 (CEST) |  
          | Date last edited | 2021-05-06 15:22:25 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
 |