CRYAB

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

CRYAB gene and transcript details

Gene Name
crystallin, alpha B

Gene Links
Ensembl: ENSG00000109846 - Locus Reference Genomic: LRG_407

Genomic Location
Chromosome 11 : 111,779,488 - 111,782,448 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (525 bases)	Protein (175 aa)
	ENST00000526180	ENSP00000436051
	LRG_407t1	LRG_407p1
	NM_001885.1
		P02511

Summary of CRYAB in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00471	0.00208	0.26%
Truncating	0.00000	0.00010	-0.01%
Non-Truncating	0.00471	0.00198	0.27%

Based on an analysis of rare variants (MAF<0.0001) in CRYAB detected in a cohort of 425 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

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

CRYAB variants in ExAC

Details of the protein-altering CRYAB 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	62	0.00107
Truncating	3	0.00005
Missense	55	0.00099
Inframe	0	0.00000
Splice Site	4	0.00003

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