Genomic variant #0000182024

Individual ID 00112725
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.52899822_52899826del
DNA change (hg38) g.55232591_55232595del
Published as -
ISCN -
DB-ID TCF4_000041
Variant remarks -
Reference PubMed: Marangi 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     

ClassClinical     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. 17 c.1563_1567del - - r.(?) p.(Glu521Aspfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113183 DNA SEQ - - TCF4 1 Irina Giurgea