Full data view for gene TCF4

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     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (dominant) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 - PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F14 PubMed: Mootha 2014 3-generation family, 4 affecteds (3F, M) F;M no United States - - 0 - - 4 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F32 PubMed: Mootha 2014 4-generation family, 4 affecteds (2F, 2M), 2 unaffected carriers F;M no United States - - 0 - - 4 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F39 PubMed: Mootha 2014 3-generation family, 2 affecteds (F, M), 1 unaffected carrier F;M no United States - - 0 - - 2 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F10-VVM173/191 PubMed: Mootha 2014 3-generation family, 4 affecteds (3F, M), 1 unaffected carrier; affected brother/sister F;M no United States - - 0 - - 4 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F33 PubMed: Mootha 2014 4-generation family, 3 affecteds (2F, M) F no United States - - 0 - - 3 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic r.(?) p.(?) Both (homozygous) g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 - PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F10-VVM16/187 PubMed: Mootha 2014 mother/daughter F no United States - - 0 - - 2 Johan den Dunnen
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