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:

RBM20 gene and transcript details

Gene Name
RNA binding motif protein 20

Gene Links
Ensembl: ENSG00000203867 - Locus Reference Genomic: LRG_382

Genomic Location
Chromosome 10 : 112,404,213 - 112,595,736 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs Transcript (3681 bases)Protein (1227 aa)
ENST00000369519 ENSP00000358532

Summary of RBM20 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
Based on an analysis of rare variants (MAF<0.0001) in RBM20 detected in a cohort of 156 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

RBM20 variants in ExAC

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 VariantsCombined frequency of rare variants
All Variants2010.00726
Splice Site90.00019

Rare variants are defined as having a mean allelic frequency of less than 0.0001.