Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 97337 single nucleotide variant NM_005762.2(TRIM28):c.1216+23C>T 398122526 MedGen:CN029768 19 59059798 59059798 C T 97337 single nucleotide variant NM_005762.2(TRIM28):c.1216+23C>T 398122526 MedGen:CN029768 19 58548431 58548431 C T 171648 single nucleotide variant NM_005762.2(TRIM28):c.2193+3G>T 193921106 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 19 58550038 58550038 G T 171648 single nucleotide variant NM_005762.2(TRIM28):c.2193+3G>T 193921106 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 19 59061405 59061405 G T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000130726.11 TRIM28 601742