| Variant #0000119315 (NC_000022.10:g.42525035C>T, NM_000106.4:c.505G>A (CYP2D6))
        
          | Individual ID | 00046445 |  
          | Chromosome | 22 |  
          | Allele | Parent #1 |  
          | 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.42525035C>T |  
          | DNA change (hg38) | g.42129033C>T |  
          | Published as | 1758G>A(G169R) |  
          | ISCN | - |  
          | DB-ID | CYP2D6_000072 See all 5 reported entries |  
          | Variant remarks | reference haplotype CYP2D6*14B; no activity (Gly169Arg) |  
          | Reference | Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee |  
          | ClinVar ID | - |  
          | dbSNP ID | rs5030865 |  
          | Origin | Germline |  
          | Segregation | yes |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 0.00096 View details |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2016-07-01 18:41:56 +02:00 (CEST) |  
          | Date last edited | 2016-12-28 10:31:47 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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