Genomic variant #0000195745

Individual ID 00112648
Chromosome 20
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.pter_cen_(40180000_40246978)::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 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CHD6 NM_032221.4 +/. 1i c.(-24+1_-23-1)::NM_001083962.1:c.(145+1_146-1) pathogenic 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