OMIM: 613244Inheritance: Autosomal dominant
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | EPCAM |
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| Dna Change: | g.77526_86198del (c.858+2568_*4596del) |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | |
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| Transcript: | AC079775.6 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | NA | 3 unrelated families | NA | Mur P et al., 2014Mur P, Pineda M, Romero A, Del Valle J, Borràs E, Canal A, Navarro M, Brunet J, Rueda D, Ramón Y Cajal T, Lázaro C, Caldés T, Blanco I, Soto JL, Capellá G, . Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.. Clin. Genet.. 2014; 85(3):260-6 |
References
Mur P, Pineda M, Romero A, Del Valle J, Borràs E, Canal A, Navarro M, Brunet J, Rueda D, Ramón Y Cajal T, Lázaro C, Caldés T, Blanco I, Soto JL, Capellá G, Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.Clin. Genet.. 2014; 85(3):260-6