Transcript #00007150

Transcript name epithelial cell adhesion molecule
Gene name EPCAM (epithelial cell adhesion molecule)
Chromosome 2
Transcript - NCBI ID NM_002354.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002345.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 7i_9_ c.? pathogenic (dominant) r.? p.?
+/. _7_9_ c.? pathogenic (dominant) r.? p.?
+/. _7_9_ c.? pathogenic (dominant) r.? p.?
+/. _7_9_ c.? pathogenic (dominant) r.? p.?
+/. - unspecified deletion pathogenic (dominant) r.? p.?
+/. - unspecified deletion pathogenic (dominant) r.? p.?
+/. - unspecified deletion pathogenic (dominant) r.? p.?
+/. _1_4i c.(?_-1)_(491+1_492-1)del pathogenic r.0 p.0
+/. _1_4i c.(?_-1)_(491+1_492-1)del pathogenic r.0 p.0
+/. _1_7i c.(?_-1)_(858+1_859-1)del pathogenic r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic (dominant) r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic r.0 p.0
+/. _1_9_ c.(_-1)_(*415_?)del pathogenic (dominant) r.? p.?
+/. 7i_9_ c.? pathogenic (dominant) r.? p.?
+/. 1 c.1A>C pathogenic r.(?) p.0?
+/. - c.13C>T pathogenic r.(?) p.(Gln5*)
+/. 1 c.38_62dup pathogenic r.(?) p.(Ala22Cysfs*17)
+/. 1 c.48_68del pathogenic r.(?) p.(Thr17_Ala23del)
-?/. - c.77-20del likely benign r.(=) p.(=)
-/. - c.77-11T>A benign r.(=) p.(=)
+/. 1i_5i c.(76+1_77-1)_(555+1_556-1)del pathogenic r.? p.?
+/. 2 c.113G>A pathogenic r.(?) p.(Cys38Tyr)
+/. 2 c.139C>T pathogenic r.(?) p.0?
-?/. - c.171C>A likely benign r.(=) p.(=)
+/. _3_9_ c.(?_185-1)_(*415_?)del pathogenic (dominant) r.? p.?
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del pathogenic r.? p.?
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del pathogenic r.? p.?
?/. 2i_9_ c.(184+1_185-1)_(*415_?)del VUS r.? p.?
+/. 3 c.197G>A pathogenic r.(?) p.(Cys66Tyr)
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*)
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*)
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*)
+/. 3 c.265C>T pathogenic r.(?) p.(Gln89*)
-?/. - c.267G>C likely benign r.(?) p.(Gln89His)
+/. 3 c.267G>C pathogenic r.(?) p.(Gln89His)
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg)
+?/. - c.307G>A likely pathogenic r.(?) p.(Gly103Arg)
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg)
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg)
+/. - c.307G>A pathogenic r.(?) p.(Gly103Arg)
+/. 3 c.314T>G pathogenic r.(?) p.(Phe105Cys)
+/. 3 c.316A>T pathogenic r.(?) p.(Lys106*)
+/. 3 c.316A>T pathogenic r.(?) p.(Lys106*)
+/. 3 c.321del pathogenic r.(?) p.(Lys108Serfs*12)
-/. - c.344T>C benign r.(?) p.(Met115Thr)
-/. 3 c.344T>C benign r.(?) p.(Met115Thr)
+/. 3 c.352_368del pathogenic r.(?) p.(Cys118Glyfs*9)
+/. 3 c.352_368del pathogenic r.(?) p.(Cys118Glyfs*9)
+/. 3 c.359A>T pathogenic r.(?) p.(Asn120Ile)
+/. 3 c.380C>T pathogenic r.(?) p.(Thr127Ile)
+/. 3 c.394G>T pathogenic r.(?) p.(Glu132*)
+/. 3 c.412C>T pathogenic r.(?) p.(Arg138*)
+/. 3 c.412C>T pathogenic r.(?) p.(Arg138*)
+/. 3i_9_ c.426-544_*3904del pathogenic (dominant) r.? p.?
+/. 3i c.426-1G>A pathogenic r.spl p.?
+/. 3i c.426-1G>A pathogenic r.spl p.?
+/. 4 c.437T>A pathogenic r.(?) p.(Ile146Asn)
-?/. - c.442_*440del likely benign r.? p.?
+/. 4 c.467del pathogenic r.(?) p.(Pro156Leufs*54)
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del
+/. 4i c.491+1G>A pathogenic r.spl p.?
+/. 4i c.491+1G>A pathogenic r.spl p.?
+/. 4i c.491+1G>A pathogenic r.spl p.?
+/. 4i c.491+1G>A pathogenic r.spl p.?
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del
+/. 4i_9_ c.491+529_*874del pathogenic (dominant) r.? p.?
+/. 4i_9_ c.491+529_*874del pathogenic (dominant) r.? p.?
+/. 4i_9_ c.492-509_*13721del pathogenic (dominant) r.? p.?
+/. 4i_9_ c.492-509_*13721del pathogenic (dominant) r.? p.?
-/. - c.492-5T>C benign r.spl? p.?
+/. 4i c.492-5T>C pathogenic r.spl? p.?
+/. 4i c.492-2A>G pathogenic r.spl p.?
+/. 4i c.492-2A>G pathogenic r.spl p.?
+/. 4i c.492-2A>G pathogenic r.spl p.?
+/. 4i c.492-2A>G pathogenic r.spl p.?
+/. 4i c.492-2A>G pathogenic r.spl p.?
+/. 4i c.492-2A>G pathogenic r.spl p.?
+/. 4i c.492-2A>G pathogenic r.spl p.?
+/. 4i c.492-1G>A pathogenic r.spl p.?
+/. 4i c.492-1G>A pathogenic r.spl p.?
+/. 4i_5i c.(491+1_492-1)_(555+1_556-1)del pathogenic r.(492_555del) p.(Ala165Metfs*24)
+/. - c.499dup pathogenic r.(?) p.(Gln167Profs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Profs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21)
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