Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 215186 single nucleotide variant NM_080875.2(MIB2):c.153C>A (p.Cys51Ter) 199741261 MedGen:CN169374 1 1550992 1550992 C A 215186 single nucleotide variant NM_080875.2(MIB2):c.153C>A (p.Cys51Ter) 199741261 MedGen:CN169374 1 1615612 1615612 C A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000197530.12 MIB2 611141