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    | Variant #0000608463 (NC_000003.11:g.195965680C>T, NM_005017.2:c.983G>A (PCYT1A))
        
          | Chromosome | 3 |  
          | 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.195965680C>T |  
          | DNA change (hg38) | g.196238809C>T |  
          | Published as | PCYT1A(NM_001312673.2):c.983G>A (p.R328H) |  
          | ISCN | - |  
          | DB-ID | PCYT1A_000028 |  
          | 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) | 0.0003 View details |  
          | Owner | VKGL-NL_Rotterdam |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Rotterdam |  
          | Date created | 2019-12-04 14:54:23 +01:00 (CET) |  
          | Date last edited | 2020-03-23 16:13:27 +01:00 (CET) |   
 
 
 
       
 
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