Unique variants in gene EPCAM

Information The variants shown are described using the NM_002354.2 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? 1 - c.-43T>C r.(=) p.(=) g.47596602T>C - EPCAM_000033 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-40C>T r.(=) p.(=) g.47596605C>T - EPCAM_000047 rs747979626 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.-22_-21del r.(=) p.(=) g.47596623_47596624del - EPCAM_000027 rs779020022 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.5C>T r.(?) p.(Ala2Val) g.47596649C>T - EPCAM_000028 rs201402370 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.19C>T r.(?) p.(Leu7Phe) g.47596663C>T - EPCAM_000004 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.28G>C r.(?) p.(Gly10Arg) g.47596672G>C - EPCAM_000035 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.63C>G r.(=) p.(=) g.47596707C>G - EPCAM_000012 rs549177672 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.76+30_76+31insGCTGG r.(=) p.(=) g.47596750_47596751insGCTGG - EPCAM_000050 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.76+43_76+44insGGGCG r.(=) p.(=) g.47596763_47596764insGGGCG - EPCAM_000023 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.76+49G>A r.(=) p.(=) g.47596769G>A - EPCAM_000015 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.76+50C>G r.(=) p.(=) g.47596770C>G - EPCAM_000016 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.106G>A r.(?) p.(Val36Ile) g.47600631G>A - EPCAM_000029 rs771315207 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.130C>T r.(?) p.(Arg44Cys) g.47600655C>T - EPCAM_000021 rs1008677622 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.134A>T r.(?) p.(Gln45Leu) g.47600659A>T - EPCAM_000030 rs372142268 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.151G>C r.(?) p.(Val51Leu) g.47600676G>C - EPCAM_000038 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.159A>C r.(=) p.(=) g.47600684A>C - EPCAM_000046 rs150562209 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.171C>A r.(=) p.(=) g.47600696C>A - EPCAM_000013 rs369992289 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.185-26G>C r.(=) p.(=) g.47600921G>C - EPCAM_000025 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.185-15A>G r.(=) p.(=) g.47600932A>G - EPCAM_000036 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.203T>G r.(?) p.(Val68Gly) g.47600965T>G - EPCAM_000019 rs863224708 - Germline - - - - Despoina Kalfakakou
-?/-? 8 - c.267G>C r.(?) p.(Gln89His) g.47601029G>C - EPCAM_000005 rs146480420 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.338C>T r.(?) p.(Thr113Ile) g.47601100C>T - EPCAM_000031 rs753947304 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.426-36G>A r.(=) p.(=) g.47602337G>A - EPCAM_000014 - - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.426-26A>G r.(=) p.(=) g.47602347A>G - EPCAM_000009 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.450C>G r.(?) p.(His150Gln) g.47602397C>G - EPCAM_000020 rs864622724 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.487C>T r.(?) p.(Arg163Trp) g.47602434C>T - EPCAM_000018 rs148725106 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.491C>T r.(?) p.(Thr164Ile) g.47602438C>T - EPCAM_000022 rs587780767 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.491+25T>C r.(=) p.(=) g.47602463T>C - EPCAM_000037 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.493G>A r.(?) p.(Ala165Thr) g.47604154G>A - EPCAM_000024 rs146685071 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.501G>A r.(=) p.(=) g.47604162G>A - EPCAM_000003 rs754990754 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.555+14A>G r.(=) p.(=) g.47604230A>G - EPCAM_000001 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.556T>C r.(?) p.(Tyr186His) g.47606092T>C - EPCAM_000045 rs1280024892 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.568G>A r.(?) p.(Val190Ile) g.47606104G>A - EPCAM_000032 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.603A>G r.(=) p.(=) g.47606139A>G - EPCAM_000010 rs730882126 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.611A>G r.(?) p.(Gln204Arg) g.47606147A>G - EPCAM_000011 rs1279695827 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.657+15C>T r.(=) p.(=) g.47606208C>T - EPCAM_000006 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.657+46C>G r.(=) p.(=) g.47606239C>G - EPCAM_000049 - - Germline - - - - Despoina Kalfakakou
?/? 9 - c.658-12del r.(=) p.(=) g.47606896del - EPCAM_000007 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.672C>A r.(=) p.(=) g.47606922C>A - EPCAM_000044 rs776888900 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.697C>G r.(?) p.(Leu233Val) g.47606947C>G - EPCAM_000034 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.765A>T r.(?) p.(Lys255Asn) g.47607015A>T - EPCAM_000042 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.805A>T r.(?) p.(Ile269Phe) g.47607055A>T - EPCAM_000043 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.806T>G r.(?) p.(Ile269Ser) g.47607056T>G - EPCAM_000041 - - Germline - - - - Despoina Kalfakakou
-/-, ./. 51 - c.831A>G r.(?) p.(Ile277Met) g.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou, Stevi Xera
+?/+? 1 - c.857_858+1del r.spl? p.? g.47607107_47607109del - EPCAM_000026 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.858+44T>G r.(=) p.(=) g.47607152T>G - EPCAM_000017 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.904-30A>T r.(=) p.(=) g.47613681A>T - EPCAM_000048 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.919G>A r.(?) p.(Glu307Lys) g.47613726G>A - EPCAM_000039 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.920A>G r.(?) p.(Glu307Gly) g.47613727A>G - EPCAM_000040 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.*16A>G r.(=) p.(=) g.47613768A>G - EPCAM_000008 rs147650232 - Germline - - - - Despoina Kalfakakou
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