RNF207
This page contains an overview of the genetic variation in the RNF207 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:
RNF207 gene and transcript details
Gene Name
ring finger protein 207
Gene Links
Ensembl: ENSG00000158286 -
Locus Reference Genomic:
Genomic Location
Chromosome 1 : 6,266,596 - 6,279,467 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1902 bases) | Protein (634 aa) |
|---|---|---|
 |
ENST00000377939 | ENSP00000367173 |
 |
||
 |
NM_207396.2 | |
 |
Q6ZRF8 |
Summary of RNF207 in Cardiomyopathies
RNF207 variants in ExAC
Details of the protein-altering RNF207 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 | 293 | 0.00454 |
| Truncating | 24 | 0.00034 |
| Missense | 230 | 0.00375 |
| Inframe | 3 | 0.00015 |
| Splice Site | 36 | 0.00030 |