Variant #0000181988 (NC_000018.9:g.52942853del, TCF4(NM_001083962.1):c.788del)

Individual ID 00112689
Chromosome 18
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.52942853del
DNA change (hg38) g.55275622del
Published as -
ISCN -
DB-ID TCF4_000014
Variant remarks -
Reference PubMed: Giurgea 2008
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 +/. 10 c.788del - r.(?) p.(Leu263*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113147 DNA SEQ - - TCF4 1 Irina Giurgea