Full data view for gene TCF4

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.? - r.? p.? Parent #1 - - g.? - t(14;18)(q13.1;q21.2) - TCF4_000000 translocation chromosomes 14;20 PubMed: Marangi 2011 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Marangi 2011 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - del RP11-397A16 - TCF4_000000 1.8 Mb deletion PubMed: Amiel 2007 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Amiel 2007 - F - - - - 0 - - 1 Johan den Dunnen
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - g.50552638_517423685 - TCF4_000000 1.2 Mb deletion PubMed: Zweier 2007; PubMed: Peippo 2006 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Zweier 2007; PubMed: Peippo 2006 - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 6.2 Mb deletion PubMed: Andrieux 2008 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Andrieux 2008 - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - del 18q21.1-q22.3 - TCF4_000000 >13 Mb deletion Gustavsson - - De novo - - - 0 - DNA microscope - - PTHS - Gustavsson - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0 p.0 Parent #1 - - g.(38100000_38400000)_(50200000_57600000)del - - 18q21.1-q22.1del TCF4_000000 >10 Mb deletion PubMed: Giurgea 2008 - - De novo - - - 0 - DNA microscope - - PTHS - PubMed: Giurgea 2008 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 large deletion PubMed: De Pontual 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: De Pontual 2008 - - - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 large deletion PubMed: De Pontual 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: De Pontual 2008 - - - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 large deletion PubMed: De Pontual 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: De Pontual 2008 - - - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - del(18)(q21.2q21.33) - TCF4_000000 large deletion PubMed: Kato 2010 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Kato 2010 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 del 11 Mb PubMed: Marangi 2011 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Marangi 2011 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 del 8.3 Mb PubMed: Marangi 2011 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Marangi 2011 - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - large del - TCF4_000000 large deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - large del - TCF4_000000 large deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - large del - TCF4_000000 large deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - large del - TCF4_000000 large deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 del 2.4 Mb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 del 2.9 Mb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0? Parent #1 - - g.? - - - TCF4_000000 del 6.1 Mb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - F - - - - 0 - - 1 Irina Giurgea
+/. 3i c.145+1_146-1::NM_032221.4:c.(-24+1_-23-1) - r.? p.? Parent #1 - pathogenic g.(53131369_53252510)_qterdelins[NC_000020.10:g.(40180000_40246978)_qter] - TCF4-CHD6 fusion t(18;20)(q21.1;q11.2) TCF4_000000 fusion transcript TCF4::CHD6 ? PubMed: Kalscheuer 2008 - - De novo - - - 0 - DNA FISH - - ? - PubMed: Kalscheuer 2008 - F - - - - 0 - - 1 Irina Giurgea
+/. 1i c.72+804_73-747[ins(81_?)] GCT[>50] r.(?) p.(?) Parent #1 - pathogenic (!) g.53253330_5325347[ins(81_?)] - - - TCF4_000000 18/344 cases are homozygous; >76-fold increased risk PubMed: Zarouchlioti 2018 - - Germline yes 344/450 cases FECD - 0 - DNA PCRrp - - FECD 29526280-Fams PubMed: Zarouchlioti 2018 344/450 FECD individuals F;M no - European - 0 - - 344 Johan den Dunnen
-/. 3i c.72+817_73-802GCT[12_35] - r.(?) p.(=) Both (homozygous) - benign g.53253385_53253459AGC[12_35] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline - - - 0 - DNA PCRrp - - FECD 24255041-F36 PubMed: Mootha 2014 4-generation family, 2 affecteds (2F) F no United States - - 0 - - 2 Johan den Dunnen
-/. 2i c.72+817_73-802GCT[21] - r.(?) p.(=) Parent #2 - benign g.53253385_53253459AGC[21] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline no - - 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
-/. 3i c72+817_73-802GCT[12_35] - r.(?) p.(=) Parent #2 - benign g.53253385_53253459AGC[12_35] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline - - - 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
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