SYNM Chromosome 15
Synemin
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What This Gene Does
The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"A-kinase anchoring proteins|Intermediate filaments Type IV"
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000182253
Associated Conditions (1)
SYNM-related disorder
Key Variants
RS1555485607
Conflicting classifications of pathogenicity
SYNM-related disorder, SYNM-related disorder
Health Risk
RS1555485987
Conflicting classifications of pathogenicity
SYNM-related disorder, SYNM-related disorder
Health Risk
RS1555485994
Conflicting classifications of pathogenicity
SYNM-related disorder, SYNM-related disorder
Health Risk
RS2151800708
Conflicting classifications of pathogenicity
SYNM-related disorder, SYNM-related disorder
Health Risk
RS2543110485
Conflicting classifications of pathogenicity
SYNM-related disorder, SYNM-related disorder
Health Risk
RS2543114978
Conflicting classifications of pathogenicity
SYNM-related disorder, SYNM-related disorder
Health Risk
RS2543117482
Conflicting classifications of pathogenicity
SYNM-related disorder, SYNM-related disorder
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555485607 | Health Risk | Conflicting classifications of pathogenicity | SYNM-related disorder, SYNM-related disorder |
| RS1555485987 | Health Risk | Conflicting classifications of pathogenicity | SYNM-related disorder, SYNM-related disorder |
| RS1555485994 | Health Risk | Conflicting classifications of pathogenicity | SYNM-related disorder, SYNM-related disorder |
| RS2151800708 | Health Risk | Conflicting classifications of pathogenicity | SYNM-related disorder, SYNM-related disorder |
| RS2543110485 | Health Risk | Conflicting classifications of pathogenicity | SYNM-related disorder, SYNM-related disorder |
| RS2543114978 | Health Risk | Conflicting classifications of pathogenicity | SYNM-related disorder, SYNM-related disorder |
| RS2543117482 | Health Risk | Conflicting classifications of pathogenicity | SYNM-related disorder, SYNM-related disorder |