Genomic variant #0000181987

Individual ID 00112688
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.52942946dupA
DNA change (hg38) g.55275715dupA
Published as 692-694insT
ISCN -
DB-ID TCF4_000006
Variant remarks -
Reference PubMed: Zweier 2007; PubMed: Peippo 2006
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 +/. 10 c.693dupT - - r.(?) p.(Gly232Trpfs*25)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113146 DNA SEQ - - TCF4 1 Johan den Dunnen