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

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

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.-47853G>C - benign r.(?) p.(=)
-?/. - c.-47721A>T - likely benign r.(?) p.(=)
-/. - c.-43559del - benign r.(?) p.(=)
?/. - c.-43295C>T - VUS r.(?) p.(=)
-/. - 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+804_73-747[ins(51_?)] GCT[>40] pathogenic (dominant) r.(?) p.(?)
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?)
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?)
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?)
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?)
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic r.(?) p.(?)
+/. 1i c.72+804_73-747[ins(81_?)] GCT[>50] pathogenic (risk) r.(?) p.(?)
-/. 2i c.72+817_73-802GCT[12] - benign r.(?) p.(=)
-/. 2i c.72+817_73-802GCT[12_26] - benign r.(?) p.(=)
-/. 3i c.72+817_73-802GCT[12_35] - benign r.(?) p.(=)
-/. 3i c.72+817_73-802GCT[12_35] - benign r.(?) p.(=)
-/. 2i c.72+817_73-802GCT[21] - benign r.(?) p.(=)
-/. 3i c72+817_73-802GCT[12_35] - 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.72+37A>G - benign r.(=) 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.(=)
-?/. - c.146-8G>A - likely benign r.(=) p.(=)
+/. 3i_6i c.146-?_369+?del - - r.del p.del
?/. - c.176G>A - VUS r.(?) p.(Trp59*)
-/. - c.207+94C>G - - r.(=) p.(=)
-/. - c.207+97T>A - benign r.(=) p.(=)
-/. - c.207+99A>T - benign r.(=) p.(=)
-/. - c.208-122C>A - 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.415del - pathogenic r.(?) p.(Leu139Phefs*95)
+/. 7 c.469C>T - - r.(?) p.(Arg157*)
+/. - c.469C>T - pathogenic r.(?) p.(Arg157*)
+/. - c.499+1G>A - pathogenic r.spl? p.?
?/. - 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)
+/. - c.520C>T - pathogenic r.(?) p.(Arg174*)
+?/+? 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.654A>G - likely pathogenic r.(?) p.(=)
+/. - c.655+1G>A - pathogenic r.spl? p.?
+/. 9i c.655+1_655+2dup - - r.spl? p.(Val184Metfs*15)
-/. - c.656-182T>A - benign r.(=) p.(=)
+/. 9i c.656-1G>C - - r.spl? p.(?)
+/. 9i_18i c.656-?_1879+?del - - r.spl p.?
+/. 10 c.687delC - - r.(?) p.(Ser230Profs*4)
+/. 10 c.693dupT - - r.(?) p.(Gly232Trpfs*25)
+/. 10 c.788delT - - r.(?) p.(Leu263*)
-?/. - c.790-9T>C - likely benign r.(=) p.(=)
+/. 11 c.791delG - - r.(?) p.(Ser264Thrfs*43)
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