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    | Variant #0000973600 (NC_000001.10:g.20976940G>A, NM_032409.2:c.1502G>A (PINK1))
        
          | Chromosome | 1 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.20976940G>A |  
          | DNA change (hg38) | - |  
          | Published as | PINK1(NM_032409.3):c.1502G>A (p.R501Q) |  
          | ISCN | - |  
          | DB-ID | DDOST_000007 |  
          | Variant remarks | VKGL data sharing initiative Nederland |  
          | Reference | - |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | CLASSIFICATION record |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 0.0025 View details |  
          | Owner | VKGL-NL_VUmc |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_VUmc |  
          | Date created | 2024-04-19 20:20:39 +02:00 (CEST) |  
          | Date last edited | N/A |   
 
 
 
       
 
 Variant on transcripts
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