SYNM
This page contains an overview of the genetic variation in the SYNM 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:
SYNM gene and transcript details
Gene Name
synemin, intermediate filament protein
Gene Links
Ensembl: ENSG00000182253 -
Locus Reference Genomic: LRG_415
Genomic Location
Chromosome 15 : 99,645,406 - 99,673,263 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (4692 bases) | Protein (1564 aa) |
|---|---|---|
 |
ENST00000336292 | ENSP00000336775 |
 |
LRG_415t1 | LRG_415p1 |
 |
NM_145728.2 | |
 |
Summary of SYNM in Cardiomyopathies
SYNM variants in ExAC
Details of the protein-altering SYNM 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 | 621 | 0.01008 |
| Truncating | 54 | 0.00070 |
| Missense | 555 | 0.00912 |
| Inframe | 7 | 0.00024 |
| Splice Site | 5 | 0.00003 |