| Variant #0000040539 (NC_000016.9:g.14041824_14041851dup, NM_005236.2:c.2371_2398dup (ERCC4))
        
          | Individual ID | 00020019 |  
          | Chromosome | 16 |  
          | Allele | Maternal (confirmed) |  
          | 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.14041824_14041851dup |  
          | DNA change (hg38) | g.13947967_13947994dup |  
          | Published as | 2371_2398dup28 |  
          | ISCN | - |  
          | DB-ID | ERCC4_000004 |  
          | Variant remarks | - |  
          | Reference | PubMed: Bogliolo 2013 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | ? |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Arleen D. Auerbach |  
          | Database submission license | No license selected |  
          | Created by | Arleen D. Auerbach |  
          | Date created | 2013-06-19 04:23:32 +02:00 (CEST) |  
          | Date last edited | 2014-10-03 21:58:05 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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