SYNE1
This page contains an overview of the genetic variation in the SYNE1 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:
SYNE1 gene and transcript details
Gene Name
spectrin repeat containing, nuclear envelope 1
Gene Links
Ensembl: ENSG00000131018 -
Locus Reference Genomic: LRG_427
Genomic Location
Chromosome 6 : 152,443,571 - 152,949,466 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (26247 bases) | Protein (8749 aa) |
|---|---|---|
 |
ENST00000423061 | ENSP00000396024 |
 |
LRG_427t2 | LRG_427p2 |
 |
NM_033071.3 | |
 |
Summary of SYNE1 in Cardiomyopathies
SYNE1 variants in ExAC
Details of the protein-altering SYNE1 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 | 3396 | 0.05423 |
| Truncating | 159 | 0.00162 |
| Missense | 2911 | 0.04767 |
| Inframe | 13 | 0.00013 |
| Splice Site | 313 | 0.00481 |