Genomic variant #0000181984

Individual ID 00112685
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.52942984C>G
DNA change (hg38) g.55275753C>G
Published as IVS9-1G>C
ISCN -
DB-ID TCF4_000004
Variant remarks not in 360 control chromosomes
Reference PubMed: Zweier 2007; PubMed: Peippo 2006; OMIM:var00004
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 Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. 9i c.656-1G>C - - r.spl? p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113143 DNA SEQ - - TCF4 1 Johan den Dunnen