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    | Variant #0000533855 (NC_000008.10:g.141407834G>A, NM_001160372.1:c.1019C>T (TRAPPC9))
        
          | Chromosome | 8 |  
          | Allele | Unknown |  
          | Affects function (as reported) | Effect unknown |  
          | Affects function (by curator) | Not classified |  
          | Classification method | - |  
          | Clinical classification | VUS |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.141407834G>A |  
          | DNA change (hg38) | g.140397735G>A |  
          | Published as | TRAPPC9(NM_001160372.4):c.1019C>T (p.(Ala340Val)), TRAPPC9(NM_001321646.1):c.992C>T (p.A331V) |  
          | ISCN | - |  
          | DB-ID | TRAPPC9_000045 See all 2 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) | 0.00044 View details |  
          | Owner | VKGL-NL_Rotterdam |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | VKGL-NL_Rotterdam |  
          | Date created | 2019-07-18 18:22:55 +02:00 (CEST) |  
          | Date last edited | 2024-04-19 20:27:30 +02:00 (CEST) |   
 
 
 
       
 
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