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    | Variant #0000079644 (NC_000008.10:g.141321437G>A, NM_001160372.1:c.1532C>T (TRAPPC9))
        
          | Individual ID | 00050367 |  
          | Chromosome | 8 |  
          | Allele | Maternal (confirmed) |  
          | Affects function (as reported) | Affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | pathogenic |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.141321437G>A |  
          | DNA change (hg38) | g.140311338G>A |  
          | Published as | - |  
          | ISCN | - |  
          | DB-ID | TRAPPC9_000002 |  
          | Variant remarks | - |  
          | Reference | PubMed: DDDS 2015, Journal: DDDS 2015 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | 2.0E-5 View details |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2015-09-27 16:16:40 +02:00 (CEST) |  
          | Date last edited | 2022-06-27 15:07:33 +02:00 (CEST) |   
 
 
 
       
 
 Variant on transcripts
 
 
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