| Variant #0000195745 (NC_000020.10:g.(40180000_40246978)_qterdelins[NC_000018.9:g.(53131369_53252510)_qter], NM_032221.4:c.-23_*2492{0} (CHD6))
        
          | Individual ID | 00112648 |  
          | Chromosome | 20 |  
          | Allele | Parent #1 |  
          | 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.(40180000_40246978)_qterdelins[NC_000018.9:g.(53131369_53252510)_qter] |  
          | DNA change (hg38) | - |  
          | Published as | CHD6-TCF4 fusion |  
          | ISCN | t(18;20)(q21.1;q11.2) |  
          | DB-ID | CHD6_000003 |  
          | Variant remarks | fusion transcript CHD6 exon 1 spliced to TCF4 exon 4 |  
          | Reference | PubMed: Kalscheuer 2008 |  
          | ClinVar ID | - |  
          | dbSNP ID | - |  
          | Origin | De novo |  
          | Segregation | - |  
          | Frequency | - |  
          | Re-site | - |  
          | VIP | - |  
          | Methylation | - |  
          | Average frequency (gnomAD v.2.1.1) | Genomic location of variant could not be determined |  
          | Owner | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2017-09-08 17:17:16 +02:00 (CEST) |  
          | Date last edited | 2021-08-12 12:44:48 +02:00 (CEST) |  
 
 
       
 
 Variant on transcripts
 
 
 Screenings
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