VAMP1 Chromosome 12
Vesicle associated membrane protein 1
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What This Gene Does
Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
Vesicle associated membrane proteins
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000139190
Associated Conditions (8)
Spastic paraplegia
Myasthenic syndrome
congenital
25
presynaptic
Houge-Janssens syndrome 2
Spastic ataxia 1
VAMP1-related disorder
Key Variants
RS1237437677
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS749846681
Conflicting classifications of pathogenicity
Spastic paraplegia, Myasthenic syndrome, congenital
Health Risk
RS750911197
Conflicting classifications of pathogenicity
Spastic paraplegia, Myasthenic syndrome, congenital
Health Risk
RS886042861
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1555130465
Likely pathogenic
Health Risk
RS1565527137
Likely pathogenic
Myasthenic syndrome, congenital, 25
Health Risk
RS2540072817
Likely pathogenic
Spastic ataxia 1, Spastic ataxia 1
Health Risk
RS1311863343
Pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1565527140
Pathogenic
Myasthenic syndrome, congenital, 25
Health Risk
RS1565527239
Pathogenic
Myasthenic syndrome, congenital, 25
Health Risk
RS878854975
Pathogenic
Spastic ataxia 1, Spastic paraplegia, Myasthenic syndrome
Health Risk
RS1308616721
Pathogenic/Likely pathogenic
Spastic paraplegia, Spastic ataxia 1, Spastic paraplegia
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1237437677 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS749846681 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Myasthenic syndrome, congenital |
| RS750911197 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Myasthenic syndrome, congenital |
| RS886042861 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS1555130465 | Health Risk | Likely pathogenic | — |
| RS1565527137 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 25 |
| RS2540072817 | Health Risk | Likely pathogenic | Spastic ataxia 1, Spastic ataxia 1 |
| RS1311863343 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1565527140 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 25 |
| RS1565527239 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 25 |
| RS878854975 | Health Risk | Pathogenic | Spastic ataxia 1, Spastic paraplegia, Myasthenic syndrome |
| RS1308616721 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Spastic ataxia 1, Spastic paraplegia |
| RS746220436 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 25 |