Genomic variant #0000182017

Individual ID 00112718
Chromosome 18
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.52901773_52901776del4
DNA change (hg38) g.55234542_55234545del
Published as 1486+3del4
ISCN -
DB-ID TCF4_000065
Variant remarks 111 Kb deletion exons 10-18
Reference PubMed: Lehalle 2011
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. 16i c.1486+3_1486+6del - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113176 DNA SEQ - - TCF4 1 Irina Giurgea