POM121C
This page contains an overview of the genetic variation in the POM121C 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:
POM121C gene and transcript details
Gene Name
POM121 transmembrane nucleoporin C
Gene Links
Ensembl: ENSG00000135213 -
Locus Reference Genomic:
Genomic Location
Chromosome 7 : 75,048,079 - 75,070,774 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2961 bases) | Protein (987 aa) |
|---|---|---|
 |
ENST00000453279 | ENSP00000414208 |
 |
||
 |
NM_001099415.1 | |
 |
Summary of POM121C in Cardiomyopathies
POM121C variants in ExAC
Details of the protein-altering POM121C 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 | 166 | 0.00289 |
| Truncating | 12 | 0.00011 |
| Missense | 129 | 0.00234 |
| Inframe | 5 | 0.00010 |
| Splice Site | 20 | 0.00033 |