C21ORF7
This page contains an overview of the genetic variation in the C21ORF7 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:
C21ORF7 gene and transcript details
Gene Name
chromosome 21 open reading frame 7
Gene Links
Ensembl: ENSG00000156265 -
Locus Reference Genomic:
Genomic Location
Chromosome 21 : 30,458,182 - 30,547,213 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (726 bases) | Protein (242 aa) |
|---|---|---|
 |
ENST00000341618 | ENSP00000343212 |
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P57077 |
Summary of C21ORF7 in Cardiomyopathies
C21ORF7 variants in ExAC
Details of the protein-altering C21ORF7 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 | 86 | 0.00138 |
| Truncating | 10 | 0.00015 |
| Missense | 61 | 0.00091 |
| Inframe | 1 | 0.00001 |
| Splice Site | 14 | 0.00031 |