| Variant #0000261643 (NC_000019.9:g.1062179G>A, NM_019112.3:c.5579G>A (ABCA7))
        
          | Chromosome | 19 |  
          | 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.1062179G>A |  
          | DNA change (hg38) | g.1062180G>A |  
          | Published as | ABCA7(NM_019112.3):c.5579G>A (p.R1860Q) |  
          | ISCN | - |  
          | DB-ID | ABCA7_000013 |  
          | 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) | 1.0E-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 | 2018-01-15 20:58:59 +01:00 (CET) |  
          | Date last edited | 2020-03-23 16:13:27 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
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