Genomic variant #0000181972

Individual ID 00112673
Chromosome 18
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.53017590_53070749del
DNA change (hg38) g.55350359_55403518del
Published as del ex6-8
ISCN -
DB-ID TCF4_000069 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Irina Giurgea




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. 5i_8i c.305-?_549+?del - - r.del p.del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113131 DNA SEQ - - TCF4 1 Irina Giurgea