MicroRNA Gene Variants

MicroRNAs (miRNAs) are small [~20 to 23 nucleotides (nt)] noncoding regulatory RNAs that are estimated to modulate the expression of almost all human genes. A relatively small number of Mendelian disease have been shown to be associated with variation in miRNA genes Machowska etl al (2026). See Figure 1 for an overview of mutation mechanisms Machowska et al. (2022)

Example - MIR96

MIR96 is a microRNA gene. It does not have a MANE sequence, so that app will ask us to enter the information by hand using this information - HGNC entry for MIR96.