All transcript variants in gene TCF4

Information The variants shown are described using the NM_001083962.1 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1i c.72+817(GCT)[(50_?)] pathogenic (risk) r.(?) p.(?) g.53253459(AGC)[(50_?)] - - - TCF4_000000 18/344 cases are homozygous; >76-fold increased risk PubMed: Zarouchlioti 2018 - - Germline yes 344/450 cases FECD - 0 - Johan den Dunnen
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