Genomic variant #0000195756

Individual ID 00119155
Chromosome 18
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.53017619G>A
DNA change (hg38) g.55350388G>A
Published as -
ISCN -
DB-ID TCF4_000023 See all 3 reported entries
Variant remarks ClinVar-ClinVar ID (RCV000224478.1)
Reference PubMed: Redin 2014
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 +?/+? 8 c.520C>T - - r.(?) p.(Arg174*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000119624 DNA SEQ - - TCF4 1 Irina Giurgea