Genomic variant #0000358091

Individual ID 00155310
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.53253330_5325347[ins(81_?)]
DNA change (hg38) -
Published as -
ISCN -
DB-ID TCF4_000000 See all 24 reported entries
Variant remarks 18/344 cases are homozygous; >76-fold increased risk
Reference PubMed: Zarouchlioti 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 344/450 cases FECD
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
TCF4 NM_001083962.1 +/. 1i c.72+804_73-747[ins(81_?)] GCT[>50] pathogenic (risk) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156174 DNA PCRrp - - TCF4 1 Johan den Dunnen