| Variant #0000873740 (NC_000008.10:g.141449258T>G, NM_001160372.1:c.623A>C (TRAPPC9))
        
          | Individual ID | 00414555 |  
          | Chromosome | 8 |  
          | Allele | Both (homozygous) |  
          | Affects function (as reported) | Probably affects function |  
          | Affects function (by curator) | Not classified |  
          | Classification method | ACMG |  
          | Clinical classification | likely pathogenic (recessive) |  
          | DNA change (genomic) (Relative to hg19 / GRCh37) | g.141449258T>G |  
          | DNA change (hg38) | g.140439159T>G |  
          | Published as | NM_031466.8:c.623A>C |  
          | ISCN | - |  
          | DB-ID | TRAPPC9_000073 |  
          | Variant remarks | - |  
          | Reference | PubMed: Uctepe 2023 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | Germline |  
          | Segregation | ? |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Retrieve |  
          | Owner | Eyyup Uctepe |  
          | Database submission license | Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International   |  
          | Created by | N/A |  
          | Date created | 2022-07-29 11:25:06 +02:00 (CEST) |  
          | Date last edited | 2025-01-23 12:29:47 +01:00 (CET) |   
 
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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