ANKRD1

This page contains an overview of the genetic variation in the ANKRD1 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:

ANKRD1 gene and transcript details

Gene Name
ankyrin repeat domain 1 (cardiac muscle)

Gene Links
Ensembl: ENSG00000148677 - Locus Reference Genomic: LRG_379

Genomic Location
Chromosome 10 : 92,672,623 - 92,680,784 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (957 bases)	Protein (319 aa)
	ENST00000371697	ENSP00000360762
	LRG_379t1	LRG_379p1
	NM_014391.2
		Q15327

Summary of ANKRD1 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of ANKRD1 in HCM (see study in the European Heart Journal), it is classified as: Functional data only (no genetic evidence).

DCM - Dilated Cardiomyopathy - explore in detail

VarType	ExAC Freq	Case Excess
All	0.00354	-0.35%
Truncating	0.00052	-0.05%
Non-Truncating	0.00304	-0.30%

Based on an analysis of rare variants (MAF<0.0001) in ANKRD1 detected in a cohort of 426 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

ANKRD1 variants in ExAC

Details of the protein-altering ANKRD1 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	151	0.00214
Truncating	15	0.00026
Missense	114	0.00150
Inframe	2	0.00002
Splice Site	20	0.00037

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