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    | Variant #0000047717 (NC_000020.10:g.44053134A>G, NC_000020.10(NM_015937.5):c.1401-2A>G (PIGT))
        
          | Individual ID | 00024929 |  
          | Chromosome | 20 |  
          | Allele | Parent #1 |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.44053134A>G |  
          | DNA change (hg38) | g.45424494A>G |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | PIGT_000002 |  
          | Variant remarks | variant detected in 1239/1463 reads |  
          | Reference | PubMed: Krawitz 2013, Journal: Krawitz 2013 |  
          | ClinVar ID | - |  
          | dbSNP ID | rs587777028 |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Philippe Campeau |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Philippe Campeau |  
          | Date created | 2014-11-20 22:55:55 +01:00 (CET) |  
          | Date last edited | 2014-11-21 17:52:46 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
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