RBM20

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
	LRG_382t1	LRG_382p1
	NM_001134363.1
		Q5T481

Summary of RBM20 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.05769	0.01414	4.36%
Truncating	0.00000	0.00018	-0.02%
Non-Truncating	0.05769	0.01394	4.38%

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 Variants	Combined frequency of rare variants
All Variants	201	0.00726
Truncating	2	0.00009
Missense	188	0.00687
Inframe	2	0.00010
Splice Site	9	0.00019

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