Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 262198 duplication NM_005883.2(APC2):c.5199dupC (p.Lys1734Glnfs) 886040957 MedGen:CN238798,OMIM:617169 19 1468499 1468499 C CC 262198 duplication NM_005883.2(APC2):c.5199dupC (p.Lys1734Glnfs) 886040957 MedGen:CN238798,OMIM:617169 19 1468500 1468500 C CC

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000176248.8 ANAPC2 606946