| Variant #0000267406 (NC_000011.9:g.111896251G>C, NM_001931.4:c.55G>C (DLAT))
        
          | Chromosome | 11 |  
          | 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.111896251G>C |  
          | DNA change (hg38) | g.112025527G>C |  
          | Published as | DLAT(NM_001931.4):c.55G>C (p.(Glu19Gln)), DLAT(NM_001931.5):c.55G>C (p.E19Q) |  
          | ISCN | - |  
          | DB-ID | DLAT_000001 See all 3 reported entries |  
          | 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) | 0.00742 View details |  
          | Owner | VKGL-NL_Groningen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Groningen |  
          | Date created | 2018-01-15 20:58:59 +01:00 (CET) |  
          | Date last edited | 2022-11-01 13:01:21 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
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