This page contains an overview of the genetic variation in the RBM20 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
RNA binding motif protein 20
|Canonical Seqs||Transcript (3681 bases)||Protein (1227 aa)|
|VarType||DCM Freq||ExAC Freq||Case Excess|
Details of the protein-altering RBM20 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
|Total Variants||Combined frequency of rare variants|