FKRP
This page contains an overview of the genetic variation in the FKRP 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:
FKRP gene and transcript details
Gene Name
fukutin related protein
Gene Links
Ensembl: ENSG00000181027 -
Locus Reference Genomic:
Genomic Location
Chromosome 19 : 47,258,708 - 47,260,195 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1485 bases) | Protein (495 aa) |
|---|---|---|
 |
ENST00000391909 | ENSP00000375776 |
 |
||
 |
NM_024301.4 | |
 |
Q9H9S5 |
Summary of FKRP in Cardiomyopathies
FKRP variants in ExAC
Details of the protein-altering FKRP 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 | 143 | 0.00265 |
| Truncating | 10 | 0.00018 |
| Missense | 132 | 0.00244 |
| Inframe | 0 | 0.00000 |
| Splice Site | 1 | 0.00002 |