|   
  
    | Variant #0000729900 (NC_000019.9:g.39993644_39993648dup, NM_016941.3:c.599_603dup (DLL3))
        
          | Individual ID | 00331399 |  
          | Chromosome | 19 |  
          | Allele | Both (homozygous) |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic (recessive) |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.39993644_39993648dup |  
          | DNA change (hg38) | g.39503004_39503008dup |  
          | Published as | NM_016941.3:c.599_603dup:p.(Pro202Alafs*41) |  
          | ISCN | - |  
          | DB-ID | DLL3_000029 |  
          | Variant remarks | - |  
          | Reference | PubMed: Maddirevula 2018 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | LOVD |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2021-02-11 15:29:38 +01:00 (CET) |  
          | Date last edited | 2021-02-11 15:37:40 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
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