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    | Variant #0000692078 (NC_000016.9:g.4848585G>A, NM_024589.1:c.516C>T (ROGDI))
        
          | Chromosome | 16 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Probably does not affect function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | likely benign |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.4848585G>A |  
          | DNA change (hg38) | - |  
          | Published as | ROGDI(NM_024589.2):c.516C>T (p.A172=) |  
          | ISCN | - |  
          | DB-ID | GLYR1_000015 |  
          | 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) | 6.0E-5 View details |  
          | Owner | VKGL-NL_Rotterdam |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Rotterdam |  
          | Date created | 2020-09-15 15:50:26 +02:00 (CEST) |  
          | Date last edited | 2021-09-17 14:40:49 +02:00 (CEST) |   
 
 
 
       
 
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