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Last update

21/6/2017

Gene: epithelial cell adhesion molecule; EPCAM

Gene Symbol: EPCAM
OMIM: 185535
Chromosome location: 2p21

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Colorectal cancer, hereditary nonpolyposis, type 8 || g.77526_86198del (c.858+2568_*4596del)

Phenotype:	Colorectal cancer, hereditary nonpolyposis, type 8
Dna Change:	g.77526_86198del (c.858+2568_*4596del)
Protein Change:
Mutation Type:	Deletion
Mutation Effect:
Location:
Transcript:	AC079775.6

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: epithelial cell adhesion molecule; EPCAM

References