| Variant #0000909756 (NC_000013.10:g.52585548G>T, NM_000053.3:c.-75C>A (ATP7B))
        
          | Individual ID | 00428557 |  
          | Chromosome | 13 |  
          | Allele | Parent #1 |  
          | Affects function (as reported) | Probably affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | VUS |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.52585548G>T |  
          | DNA change (hg38) | g.52011412G>T |  
          | Published as | [-408T>C;-75C>A] |  
          | ISCN | - |  
          | DB-ID | ATP7B_000127 See all 11 reported entries |  
          | Variant remarks | no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay |  
          | Reference | PubMed: Mukherjee 2014 |  
          | ClinVar ID | - |  
          | dbSNP ID | rs2277448 |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | 0.082 |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2023-01-05 09:31:02 +01:00 (CET) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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