SLC6A5 Chromosome 11
Solute carrier family 6 member 5
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What This Gene Does
This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
11p15.1
Ensembl
ENSG00000165970
Associated Conditions (4)
Hyperekplexia 3
Inborn genetic diseases
SLC6A5-related disorder
Exaggerated startle response
Key Variants
RS121908494
Conflicting classifications of pathogenicity
Hyperekplexia 3, Hyperekplexia 3
Health Risk
RS142440636
Conflicting classifications of pathogenicity
Hyperekplexia 3, Hyperekplexia 3
Health Risk
RS143967107
Conflicting classifications of pathogenicity
Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3
Health Risk
RS144285788
Conflicting classifications of pathogenicity
Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3
Health Risk
RS1474968844
Conflicting classifications of pathogenicity
Hyperekplexia 3, Hyperekplexia 3
Health Risk
RS1476186922
Conflicting classifications of pathogenicity
Hyperekplexia 3, Hyperekplexia 3
Health Risk
RS151244472
Conflicting classifications of pathogenicity
Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3
Health Risk
RS1715297
Conflicting classifications of pathogenicity
Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3
Health Risk
RS200003617
Conflicting classifications of pathogenicity
Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3
Health Risk
RS200496125
Conflicting classifications of pathogenicity
Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3
Health Risk
RS201604337
Conflicting classifications of pathogenicity
Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3
Health Risk
RS371265931
Conflicting classifications of pathogenicity
Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3
Health Risk
All Variants (73)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908494 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Hyperekplexia 3 |
| RS142440636 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Hyperekplexia 3 |
| RS143967107 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS144285788 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS1474968844 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Hyperekplexia 3 |
| RS1476186922 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Hyperekplexia 3 |
| RS151244472 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS1715297 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS200003617 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS200496125 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS201604337 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS371265931 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS555858151 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS562578394 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS745823180 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Hyperekplexia 3 |
| RS746842267 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS752971854 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hyperekplexia 3, Inborn genetic diseases |
| RS753404579 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS753956513 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Hyperekplexia 3 |
| RS755131121 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS759580965 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS762850669 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS774039277 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Hyperekplexia 3 |
| RS781330809 | Health Risk | Conflicting classifications of pathogenicity | Hyperekplexia 3, Hyperekplexia 3 |
| RS1085307782 | Health Risk | Likely pathogenic | — |
| RS1131691477 | Health Risk | Likely pathogenic | — |
| RS1251099671 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS1254431908 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS1555039090 | Health Risk | Likely pathogenic | — |
| RS1565271429 | Health Risk | Likely pathogenic | — |
| RS1590174665 | Health Risk | Likely pathogenic | SLC6A5-related disorder, SLC6A5-related disorder |
| RS2133774690 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS2133775660 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS2133788446 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS2133808393 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS2133819352 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS2494105581 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3, Hyperekplexia 3 |
| RS2494198017 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS543949463 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS754519573 | Health Risk | Likely pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS759132017 | Health Risk | Likely pathogenic | — |
| RS1203538648 | Health Risk | Pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS121908493 | Health Risk | Pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS121908495 | Health Risk | Pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS121908496 | Health Risk | Pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS121908497 | Health Risk | Pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS142573911 | Health Risk | Pathogenic | Hyperekplexia 3, Inborn genetic diseases, Hyperekplexia 3 |
| RS1468013577 | Health Risk | Pathogenic | Hyperekplexia 3, Hyperekplexia 3, Hyperekplexia 3 |
| RS1590154255 | Health Risk | Pathogenic | Hyperekplexia 3, Hyperekplexia 3 |
| RS1590169700 | Health Risk | Pathogenic | Exaggerated startle response, Exaggerated startle response |