SYNM Chromosome 15

Synemin
7 variants 7 Health Risk

Upload your DNA to see your personal genotypes for variants in SYNM.

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
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
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