SYT14 Chromosome 1
Synaptotagmin 14
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What This Gene Does
This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Synaptotagmins
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000143469
Associated Conditions (1)
Autosomal recessive spinocerebellar ataxia 11
Key Variants
RS145963511
Conflicting classifications of pathogenicity
Health Risk
RS2307890
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 11, Autosomal recessive spinocerebellar ataxia 11
Health Risk
RS985232390
Conflicting classifications of pathogenicity
Health Risk
RS1553255775
Likely pathogenic
Health Risk
RS387907033
Pathogenic
Autosomal recessive spinocerebellar ataxia 11, Autosomal recessive spinocerebellar ataxia 11
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145963511 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2307890 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 11, Autosomal recessive spinocerebellar ataxia 11 |
| RS985232390 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553255775 | Health Risk | Likely pathogenic | — |
| RS387907033 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 11, Autosomal recessive spinocerebellar ataxia 11 |