GLRA1 Chromosome 5
Glycine receptor alpha 1
Upload your DNA to see your personal genotypes for variants in GLRA1.
What This Gene Does
The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Glycine receptors
Locus Type
gene with protein product
Location
5q33.1
Ensembl
ENSG00000145888
Associated Conditions (5)
Hereditary hyperekplexia
Hyperekplexia 1
GLRA1-related disorder
Inborn genetic diseases
Seizure
Key Variants
RS1064795411
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, Hereditary hyperekplexia
Health Risk
RS1131691474
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, Hereditary hyperekplexia
Health Risk
RS121918414
Conflicting classifications of pathogenicity
Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1
Health Risk
RS121918416
Conflicting classifications of pathogenicity
Hyperekplexia 1, GLRA1-related disorder, Hyperekplexia 1
Health Risk
RS1296531416
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, Hyperekplexia 1, GLRA1-related disorder
Health Risk
RS138173310
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, GLRA1-related disorder, Hyperekplexia 1
Health Risk
RS141039714
Conflicting classifications of pathogenicity
Hyperekplexia 1, Hereditary hyperekplexia, Inborn genetic diseases
Health Risk
RS142888296
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, GLRA1-related disorder, Hyperekplexia 1
Health Risk
RS146481873
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, Seizure, Inborn genetic diseases
Health Risk
RS150716717
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, Hereditary hyperekplexia
Health Risk
RS199618583
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, Hereditary hyperekplexia
Health Risk
RS199910297
Conflicting classifications of pathogenicity
Hereditary hyperekplexia, Hereditary hyperekplexia
Health Risk
All Variants (88)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918410 | Health Risk | Pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS121918411 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS121918412 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS121918413 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS121918415 | Health Risk | Pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS121918417 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS121918418 | Health Risk | Pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS1554085893 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS1763348882 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS2113349880 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS2113359152 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS2479902942 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS2479969893 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS2479981350 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS2479991143 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS2479991264 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS2479991322 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS2479991693 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS267606848 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS281864916 | Health Risk | Pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS281864920 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS281864921 | Health Risk | Pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS750107200 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS757488419 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS758811460 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS760390019 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS762864856 | Health Risk | Pathogenic | Hyperekplexia 1, Hyperekplexia 1 |
| RS765708068 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS772056555 | Health Risk | Pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS867618642 | Health Risk | Pathogenic | — |
| RS1581623798 | Health Risk | Pathogenic/Likely pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS1753918029 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS199547699 | Health Risk | Pathogenic/Likely pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS281864915 | Health Risk | Pathogenic/Likely pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS281864918 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperekplexia, Hyperekplexia 1, Hereditary hyperekplexia |
| RS281864919 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS751659671 | Health Risk | Pathogenic/Likely pathogenic | Hyperekplexia 1, Hereditary hyperekplexia, Hyperekplexia 1 |
| RS781570584 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperekplexia, Hyperekplexia 1, Hereditary hyperekplexia |