CSRP3

This page contains an overview of the genetic variation in the CSRP3 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:

CSRP3 gene and transcript details

Gene Name
cysteine and glycine-rich protein 3 (cardiac LIM protein)

Gene Links
Ensembl: ENSG00000129170 - Locus Reference Genomic: LRG_440

Genomic Location
Chromosome 11 : 19,204,217 - 19,213,995 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (582 bases)	Protein (194 aa)
	ENST00000533783	ENSP00000431813
	LRG_440t1	LRG_440p1
	NM_003476.3
		P50461

Summary of CSRP3 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of CSRP3 in HCM (see study in the European Heart Journal), it is classified as: Strong Evidence.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00423	0.00324	0.10%
Truncating	0.00106	0.00036	0.07%
Non-Truncating	0.00317	0.00288	0.03%

Based on an analysis of rare variants (MAF<0.0001) in CSRP3 detected in a cohort of 945 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

CSRP3 variants in ExAC

Details of the protein-altering CSRP3 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	105	0.00168
Truncating	12	0.00018
Missense	89	0.00144
Inframe	0	0.00000
Splice Site	4	0.00006

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