Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171288 single nucleotide variant NM_005101.3(ISG15):c.379G>T (p.Glu127Ter) 672601312 MedGen:CN221808,OMIM:616126 1 949739 949739 G T 171288 single nucleotide variant NM_005101.3(ISG15):c.379G>T (p.Glu127Ter) 672601312 MedGen:CN221808,OMIM:616126 1 1014359 1014359 G T 171289 duplication NM_005101.3(ISG15):c.339dupG (p.Leu114Alafs) 672601345 MedGen:CN221808,OMIM:616126 1 949699 949699 G GG 171289 duplication NM_005101.3(ISG15):c.339dupG (p.Leu114Alafs) 672601345 MedGen:CN221808,OMIM:616126 1 1014319 1014319 G GG 181485 single nucleotide variant NM_005101.3(ISG15):c.163C>T (p.Gln55Ter) 786201005 MedGen:CN221808,OMIM:616126 1 1014143 1014143 C T 181485 single nucleotide variant NM_005101.3(ISG15):c.163C>T (p.Gln55Ter) 786201005 MedGen:CN221808,OMIM:616126 1 949523 949523 C T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000187608.8 ISG15 147571