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    | Variant #0000404128 (NC_000005.9:g.36953718A>G, NC_000005.9(NM_133433.3):c.-79-2A>G (NIPBL))
        
          | Individual ID | 00179715 |  
          | Chromosome | 5 |  
          | Allele | Unknown |  
          | 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.36953718A>G |  
          | DNA change (hg38) | g.36953616A>G |  
          | Published as | 1-81A>G |  
          | ISCN | - |  
          | DB-ID | NIPBL_000148 |  
          | Variant remarks | - |  
          | Reference | PubMed: Selicorni 2007 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline/De novo (untested) |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Cristina Dias |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Jorge Oliveira |  
          | Date created | 2009-04-13 18:43:06 +02:00 (CEST) |  
          | Date last edited | 2020-06-17 10:01:03 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
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