ABCC9

This page contains an overview of the genetic variation in the ABCC9 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:

ABCC9 gene and transcript details

Gene Name
ATP-binding cassette, sub-family C (CFTR/MRP), member 9

Gene Links
Ensembl: ENSG00000069431 - Locus Reference Genomic: LRG_377

Genomic Location
Chromosome 12 : 21,958,108 - 22,089,608 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (4647 bases)Protein (1549 aa)
ENST00000261201 ENSP00000261201
LRG_377t2LRG_377p2
NM_005691.2
O60706

Summary of ABCC9 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.013560.008740.48%
Truncating0.001690.000740.10%
Non-Truncating0.011860.008000.39%
Based on an analysis of rare variants (MAF<0.0001) in ABCC9 detected in a cohort of 590 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


ABCC9 variants in ExAC

Details of the protein-altering ABCC9 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 VariantsCombined frequency of rare variants
All Variants3950.00589
Truncating340.00037
Missense2740.00400
Inframe10.00000
Splice Site860.00152

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