All variants in the TCF4 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+?/+? 8 c.505C>T - r.(?) p.(Gln169*) - likely pathogenic g.53017634G>A g.55350403G>A - - TCF4_000104 - PubMed: Grozeva 2015 - - De novo - - - 0 - Irina Giurgea
+?/. - c.505C>T - r.(?) p.(Gln169*) - likely pathogenic (dominant) g.53017634G>A g.55350403G>A - - TCF4_000104 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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