All variants in the EPCAM gene

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

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
+/+ 9 deletion of exon 9 . Hetero MSH2 . - deletion of exon 9 - EPCAM_000008 - - Marina Antelo-Hospital Udaondo
?/? 1 Exon 1 alteration p.? Hetero no r.? confirmation of alteration by MLPA methodology is recommended g.? - DIS3L2_000004 - - Claudia Martin-Hospital de Córdoba
+/+ 1 c.13C>T p.(Gln5*) Hetero N/A r.(?) - g.47369518C>T - EPCAM_000006 - - Lina Nuñez-Hospital Alemán
./- 1 c.50C>A p.(Thr17Lys) Hetero no r.(?) - g.47369555C>A - EPCAM_000011 - - Silvina Sisterna-Hospital de Comunidad
?/? 3 c.219G>A p.(Met73Ile) Hetero PALB2 r.(219g>a) - g.47373842G>A - EPCAM_000014 - - Norma Rossi - Sanatorio Allende
-/-? 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Maria Laura Gonzalez-Hospital Italiano
-/-? 3 c.344T>C p.(Met115Thr) Hetero MLH1 r.(?) - g.47373967T>C - EPCAM_000001 - - Pablo Kalfayan-Hospital Italiano
-/-? 3 c.344T>C p.(Met115Thr) Homo no r.(?) - g.47373967T>C - EPCAM_000001 - - Jose Llugdar-Instituto Oulton
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) RECLASSIFIED JUNE 2019 g.47373967T>C - EPCAM_000001 - - Lina Nuñez-Hospital Alemán
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Pablo Kalfayan-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Homo MLH1 r.(?) - g.47373967T>C - EPCAM_000001 - - Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero MLH1 r.(?) - g.47373967T>C - EPCAM_000001 - - Carlos Vaccaro-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Carlos Vaccaro-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 rs1126497 - Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Not specified no r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 rs1126497 - Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Not specified no r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 rs1126497 ENST00000405271.1:c.428T>C p.(Met143Thr) Silvina Sisterna-Hospital de Comunidad
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Hetero BRCA2 r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - g.47373967T>C - EPCAM_000001 - - Silvina Sisterna-Hospital de Comunidad
-/- 4i c.492-5T>C p.? Hetero no r.spl? RECLASSIFIED JULY 2022 g.47377009T>C - EPCAM_000010 - - Silvina Sisterna-Hospital de Comunidad
?/? 6 c.577A>G p.(Ile193Val) Hetero no r.(?) - g.47378974A>G - EPCAM_000007 - - Claudia Martin-Hospital de Córdoba
?/? 6 c.640T>C p.(Tyr214His) Hetero no r.(?) - g.47379037T>C - EPCAM_000009 - - Cecilia Montes-IMGO
?/? 7 c.694G>A p.(Asp232Asn) Hetero no r.(?) - g.47379805G>A - EPCAM_000013 - - Claudia Martin-Hospital de Córdoba
?/? 7 c.740C>G p.(Thr247Ser) Hetero BARD1 r.(740c>g) - g.47379851C>G - EPCAM_000017 - - Emilia Maldonado-Hospital de Córdoba
?/-? 7 c.831A>G p.(Ile277Met) Hetero BRCA2 r.(?) - g.47379942A>G - EPCAM_000012 - - Laura Vargas Roig-IMBECU
-?/- 7i c.859-81C>T p.(=) Hetero no r.(=) RISK FACTOR g.47385085C>T - EPCAM_000002 - - Maria Laura Gonzalez-Hospital Italiano
-/- 7i c.859-81C>T p.(=) Homo no r.(=) RECLASSIFIED JULY 2022. RISK FACTOR. g.47385085C>T - EPCAM_000002 - - Jose Llugdar-Instituto Oulton
+/+ 8-9 c.859_*415del p.? Hetero N/A r.? - g.45004_46866del - EPCAM_000015 - Deletion (Exons 8-9) Pablo Kalfayan-Hospital Italiano
-/- 8i c.904-12T>C p.(=) Hetero MLH1 r.(=) RECLASSIFIED JUNE 2019 g.47386560T>C - EPCAM_000004 - - Pablo Kalfayan-Hospital Italiano
-/- 8i c.904-12T>C p.(=) Hetero no r.(=) - g.47386560T>C - EPCAM_000004 - - Pablo Kalfayan-Hospital Italiano
-/- 8i c.904-12T>C p.(=) Hetero MLH1 r.(=) - g.47386560T>C - EPCAM_000004 - - Maria Laura Gonzalez-Hospital Italiano
./- 8i c.904-12T>C p.(=) Hetero no r.(=) - g.47386560T>C - EPCAM_000004 - - Silvina Sisterna-Hospital de Comunidad
+?/+? 9 c.904-1_904del p.? Hetero no r.? - g.47386571_47386572del - EPCAM_000016 - - Claudia Martin-Hospital de Córdoba
-/-? 3'UTR c.*118T>C p.(=) Hetero no r.(=) - g.47386731T>C - EPCAM_000003 - - Maria Laura Gonzalez-Hospital Italiano
-/-? 3'UTR c.*118T>C p.(=) Hetero MLH1 r.(=) - g.47386731T>C - EPCAM_000003 - - Maria Laura Gonzalez-Hospital Italiano
-/-? 3'UTR c.*118T>C p.(=) Hetero MLH1 r.(=) - g.47386731T>C - EPCAM_000003 - - Carlos Vaccaro-Hospital Italiano
-/- 3'UTR c.*118T>C p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022 g.47386731T>C - EPCAM_000003 - - Maria Laura Gonzalez-Hospital Italiano
-/- 3'UTR c.*572C>G p.(=) Hetero MLH1 r.(=) RECLASSIFIED JULY 2022 g.47387185C>G - EPCAM_000005 - - Pablo Kalfayan-Hospital Italiano
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