ABCG5
This page contains an overview of the genetic variation in the ABCG5 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:
ABCG5 gene and transcript details
Gene Name
ATP-binding cassette, sub-family G (WHITE), member 5
Gene Links
Ensembl: ENSG00000138075 -
Locus Reference Genomic:
Genomic Location
Chromosome 2 : 44,040,255 - 44,065,818 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1953 bases) | Protein (651 aa) |
|---|---|---|
 |
ENST00000260645 | ENSP00000260645 |
 |
||
 |
NM_022436.2 | |
 |
Q9H222 |
Summary of ABCG5 in Cardiomyopathies
ABCG5 variants in ExAC
Details of the protein-altering ABCG5 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 | 334 | 0.00521 |
| Truncating | 30 | 0.00036 |
| Missense | 267 | 0.00427 |
| Inframe | 1 | 0.00001 |
| Splice Site | 36 | 0.00059 |