Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 247200 single nucleotide variant NM_001145073.2(USP27X):c.161A>C (p.Lys54Thr) 879255359 MedGen:CN169374 X 49645071 49645071 A C 247200 single nucleotide variant NM_001145073.2(USP27X):c.161A>C (p.Lys54Thr) 879255359 MedGen:CN169374 X 49880468 49880468 A C 249260 deletion NM_001145073.2(USP27X):c.1023_1027delAAGTA (p.Ser342Argfs) 886038210 MedGen:CN238520,OMIM:300984 X 49881330 49881334 AAGTA - 249260 deletion NM_001145073.2(USP27X):c.1023_1027delAAGTA (p.Ser342Argfs) 886038210 MedGen:CN238520,OMIM:300984 X 49645933 49645937 AAGTA - 249261 single nucleotide variant NM_001145073.2(USP27X):c.1141T>C (p.Tyr381His) 886038211 MedGen:CN238520,OMIM:300984 X 49881448 49881448 T C 249261 single nucleotide variant NM_001145073.2(USP27X):c.1141T>C (p.Tyr381His) 886038211 MedGen:CN238520,OMIM:300984 X 49646051 49646051 T C

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000273820.1 USP27X 300975