All variants in the TCF4 gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] r.(?) p.(?) - pathogenic (dominant) g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 - PubMed: Mootha 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] r.(?) p.(?) - pathogenic (!) g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] r.(?) p.(?) - pathogenic (!) g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] r.(?) p.(?) - pathogenic (!) g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] r.(?) p.(?) - pathogenic (!) g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] r.(?) p.(?) - pathogenic g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 - PubMed: Mootha 2014 - - Germline yes - - 0 - Johan den Dunnen
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