GLA

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

GLA gene and transcript details

Gene Name
galactosidase, alpha

Gene Links
Ensembl: ENSG00000102393 - Locus Reference Genomic: LRG_672

Genomic Location
Chromosome X : 100,652,797 - 100,662,891 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (1287 bases)	Protein (429 aa)
	ENST00000218516	ENSP00000218516
	LRG_672t1	LRG_672p1
	NM_000169.2
		P06280

Summary of GLA in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.00730	0.00100	0.63%
Truncating	0.00000	0.00000	0.00%
Non-Truncating	0.00730	0.00100	0.63%

Based on an analysis of rare variants (MAF<0.0001) in GLA detected in a cohort of 3700 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	ExAC Freq	Case Excess
All	0.00100	-0.10%
Truncating	0.00000	0.00%
Non-Truncating	0.00100	-0.10%

Based on an analysis of rare variants (MAF<0.0001) in GLA detected in a cohort of 541 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

GLA variants in ExAC

Details of the protein-altering GLA 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	58	0.00083
Truncating	0	nan
Missense	53	0.00069
Inframe	0	0.00000
Splice Site	5	0.00015

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