All variants in the TCF4 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 12 c.990G>A - r.spl? p.(Ser330=) ACMG pathogenic g.52928697C>T g.55261466C>T - - TCF4_000098 - - - - De novo yes - - 0 - Bernt Popp
+?/+? 12 c.990G>A - r.spl? p.(Ser330=) - likely pathogenic g.52928697C>T g.55261466C>T - - TCF4_000098 ClinVar-ClinVar ID (RCV000147730.1) PubMed: Tan 2015 - - De novo - - - 0 - Irina Giurgea
./. 12 c.990G>A - r.(=) p.(=) - likely pathogenic g.52928697C>T g.55261466C>T - - TCF4_000098 - - - - De novo - - - 0 - Irina Giurgea
+/. - c.990G>A - r.(?) p.(Ser330=) - pathogenic g.52928697C>T g.55261466C>T - - TCF4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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