Transcript #00000133

Transcript name transcription factor 4, transcript variant 1
Gene name TCF4 (transcription factor 4)
Chromosome 18
Transcript - NCBI ID NM_001083962.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001077431.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

221 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_10i c.(?_-612)_789+?del - r.0? p.0?
+/. - c.? - r.? p.?
./. _1_20_ c.-24759932_*4532602del - r.0? p.0?
-/. - c.-387del benign r.(=) p.(=)
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. _1_20_ c.(?_-1)_(*1_?)del - r.0? p.0?
+/. 3i c.145+1_146-1::NM_032221.4:c.(-24+1_-23-1) pathogenic r.? p.?
+/. 2i c.72+817(GCT)[(40_?)] pathogenic (dominant) r.(?) p.(?)
+/. 2i c.72+817(GCT)[(40_?)] pathogenic (risk) r.(?) p.(?)
+/. 2i c.72+817(GCT)[(40_?)] pathogenic (risk) r.(?) p.(?)
+/. 2i c.72+817(GCT)[(40_?)] pathogenic (risk) r.(?) p.(?)
+/. 2i c.72+817(GCT)[(40_?)] pathogenic (risk) r.(?) p.(?)
+/. 2i c.72+817(GCT)[(40_?)] pathogenic r.(?) p.(?)
+/. 1i c.72+817(GCT)[(50_?)] pathogenic (risk) r.(?) p.(?)
-/. 2i c.72+817(GCT)[12] benign r.(?) p.(=)
-/. 3i c.72+817(GCT)[12_15] benign r.(?) p.(=)
-/. 3i c.72+817(GCT)[12_15] benign r.(?) p.(=)
-/. 2i c.72+817(GCT)[12_26] benign r.(?) p.(=)
-/. 3i c.72+817(GCT)[12_35] benign r.(?) p.(=)
-/. 2i c.72+817(GCT)[21] benign r.(?) p.(=)
+/. 3i NM_032221.4:c.(-24+1_-23-1)::c.(145+1_146-1) pathogenic NM_032221.4:r.-178_-24::r.146_*5704 p.?
-?/. - c.73-3T>C likely benign r.spl? p.?
-?/. - c.145+12C>A likely benign r.(=) p.(=)
-/. 3i c.145+42209= benign r.(=) p.(=)
-/. 3i c.145+42209= benign r.(?) p.(=)
-/. 3i c.145+42209= benign r.(=) p.(=)
-/. 3i c.145+42209= benign r.(=) p.(=)
-/. 3i c.145+42209= benign r.(?) p.(=)
-/. 3i c.145+42209= benign r.(=) p.(=)
-/. - c.146-46374T>C benign r.(=) p.(=)
?/. - c.146-120G>T - r.(=) p.(=)
+/. 3i_6i c.146-?_369+?del - r.del p.del
+?/. - c.176G>A likely pathogenic r.(?) p.(Trp59*)
-/. - c.207+94C>G - r.(=) p.(=)
-/. - c.207+97T>A benign r.(=) p.(=)
-/. - c.207+99A>T benign r.(=) p.(=)
-?/. - c.208-8A>G likely benign r.(=) p.(=)
-/. - c.304+203G>T benign r.(=) p.(=)
-/. - c.305-165C>T benign r.(=) p.(=)
+/. 5i_8i c.305-?_549+?del - r.del p.del
+/. 5i_8i c.305-?_549+?del - r.del p.del
+/. 5i_8i c.305-?_549+?del - r.del p.del
?/. - c.369+35G>A - r.(=) p.(=)
+/. - c.373_374del pathogenic r.(?) p.(Leu126Profs*4)
+/. 7 c.469C>T - r.(?) p.(Arg157*)
+/. - c.469C>T pathogenic r.(?) p.(Arg157*)
+/. - c.486dup pathogenic r.(?) p.(Ser163Glnfs*2)
+?/. - c.495del likely pathogenic r.(?) p.(Met166Trpfs*68)
?/. - c.500-56A>G - r.(=) p.(=)
+?/+? 8 c.505C>T - r.(?) p.(Gln169*)
+?/+? 8 c.514_517del - r.(?) p.(Lys172Phefs*61)
+/. 8 c.514_517del - r.(?) p.(Lys172Phefs*61)
+?/+? 8 c.520C>T - r.(?) p.(Arg174*)
+/. 8 c.520C>T - r.(?) p.(Arg174*)
-/. - c.549+28833A>G benign r.(=) p.(=)
-/. - c.549+28879del benign r.(=) p.(=)
?/. - c.550-22846A>G VUS r.(=) p.(=)
+?/+? 8i c.550-1G>A - r.spl? p.?
+/. 8i c.550-1G>C - r.spl p.(Val184Metfs*15)
+/. 9 c.550-?_655+?del - r.del p.del
+/. 8i_15i c.550-?_1350+?del - r.del p.del
+/. 8i_17i c.550-?_1649+?del - r.del p.del
+/. 8i_20_ c.550-?_*5704+?del - r.del p.del
+/. - c.655+1G>A pathogenic r.spl? p.?
+/. 9i c.655+1_655+2dup - r.spl? p.(Val184Metfs*15)
+/. 9i c.656-1G>C - r.spl? p.(?)
+/. 9i_18i c.656-?_1879+?del - r.spl p.?
+/. - c.687del pathogenic r.(?) p.(Ser230Profs*4)
+/. 10 c.687delC - r.(?) p.(Ser230Profs*4)
+/. 10 c.693dupT - r.(?) p.(Gly232Trpfs*25)
+/. - c.696_699dup pathogenic r.(?) p.(Asn234Aspfs*24)
+/. 10 c.788delT - r.(?) p.(Leu263*)
-?/. - c.790-9T>C likely benign r.(=) p.(=)
+/. 11 c.791delG - r.(?) p.(Ser264Thrfs*43)
+?/+? 12 c.873C>A - r.(?) p.(Tyr291*)
+/. 11 c.908delC - r.(?) p.(Thr303Lysfs*4)
+/. - c.922+6T>G pathogenic r.(=) p.(=)
-/. - c.923-43G>A benign r.(=) p.(=)
-/. - c.923-43G>A - r.(=) p.(=)
+/. 11i c.923-2A>G - r.spl p.?
+/. 12 c.928dupA - r.(?) p.(Arg310Lysfs*29)
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