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 InternationalCreative Commons License
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


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHD6 NM_032221.4 +/. 1i c.-23_*2492{0} r.-178_-24::NM_001083962.1:r.146_*5704 p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113106 DNA FISH - - CHD6, TCF4 4 Irina Giurgea


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