All transcript variants in gene EPCAM


NOTE: alias for geneID is TACSTD1
Information The variants shown are described using the NM_002354.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 8i_9_ c.(903+1_904-1)_(*1_?)del pathogenic r.? p.? g.(47612350_47613710)_(47643569_47656880)del - deletion EPCAM exon 9 to MSH2 exon 6 - EPCAM_000005 - - - - Germline - - - 0 - INSiGHT group
+/. 8i_9_ c.(903+1_904-1)_(*1_?)del pathogenic r.? p.? g.(47612350_47613710)_(47613753_47630323)del - - - EPCAM_000087 Suppresses expression of MSH2 - - - Germline - - - 0 - Nancy Uhrhammer
Legend