COL4A5
This page contains an overview of the genetic variation in the COL4A5 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:
COL4A5 gene and transcript details
Gene Name
collagen, type IV, alpha 5
Gene Links
Ensembl: ENSG00000188153 -
Locus Reference Genomic:
Genomic Location
Chromosome X : 107,683,356 - 107,939,608 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (5055 bases) | Protein (1685 aa) |
|---|---|---|
 |
ENST00000361603 | ENSP00000354505 |
 |
||
 |
NM_000495.4 | |
 |
P29400 |
Summary of COL4A5 in Cardiomyopathies
COL4A5 variants in ExAC
Details of the protein-altering COL4A5 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 | 355 | 0.00678 |
| Truncating | 4 | 0.00005 |
| Missense | 291 | 0.00591 |
| Inframe | 1 | 0.00001 |
| Splice Site | 59 | 0.00081 |