Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 196427 single nucleotide variant NM_014176.3(UBE2T):c.4C>G (p.Gln2Glu) 774357609 MedGen:CN231325,OMIM:616435 1 202304879 202304879 G C 196427 single nucleotide variant NM_014176.3(UBE2T):c.4C>G (p.Gln2Glu) 774357609 MedGen:CN231325,OMIM:616435 1 202335751 202335751 G C 196428 single nucleotide variant NM_014176.3(UBE2T):c.179+5G>A 796052212 MedGen:CN231325,OMIM:616435 1 202334984 202334984 C T 196428 single nucleotide variant NM_014176.3(UBE2T):c.179+5G>A 796052212 MedGen:CN231325,OMIM:616435 1 202304112 202304112 C T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000077152.9 UBE2T 610538