Genomic variant #0000182019

Individual ID 00112720
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.52899878dupT
DNA change (hg38) g.55232647dupT
Published as 1512insA
ISCN -
DB-ID TCF4_000079
Variant remarks -
Reference PubMed: Zweier 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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. 17 c.1511dupA - - r.(?) p.(Ser505Glufs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113178 DNA SEQ - - TCF4 1 Irina Giurgea