Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 204091 single nucleotide variant NM_001199161.1(USP19):c.1134G>T (p.Glu378Asp) 796052187 MedGen:C0023976,SNOMED CT:C0023976 3 49116600 49116600 C A 204091 single nucleotide variant NM_001199161.1(USP19):c.1134G>T (p.Glu378Asp) 796052187 MedGen:C0023976,SNOMED CT:C0023976 3 49154033 49154033 C A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000172046.18 USP19 614471