| Variant #0000690597 (NC_000009.11:g.80923311A>T, NC_000009.11(NM_021154.3):c.571-19A>T (PSAT1))
        
          | Chromosome | 9 |  
          | 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.80923311A>T |  
          | DNA change (hg38) | - |  
          | Published as | PSAT1(NM_058179.4):c.571-19A>T |  
          | ISCN | - |  
          | DB-ID | PSAT1_000021 |  
          | 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) | 0.00011 View details |  
          | Owner | VKGL-NL_Utrecht |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Utrecht |  
          | Date created | 2020-09-15 15:50:26 +02:00 (CEST) |  
          | Date last edited | 2021-09-17 14:40:49 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
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