Gene entry
GLRA1
glycine receptor alpha 1
- Chromosome
- 5
- Cytoband
- 5q33.1
- Variants (rsID)
- 17
GLRA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q33.1). Its official name is “glycine receptor alpha 1”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs116474260Benignsingle nucleotide variantHyperekplexia 1|Hereditary hyperekplexia
- rs75463357Benignsingle nucleotide variantHyperekplexia 1|Hereditary hyperekplexia
- rs199547699Likely pathogenicsingle nucleotide variantHyperekplexia 1|Hereditary hyperekplexia
- rs281864918Likely pathogenicsingle nucleotide variantHereditary hyperekplexia
- rs281864919Pathogenicsingle nucleotide variantHereditary hyperekplexia
- rs121918414Uncertain significancesingle nucleotide variantHyperekplexia 1|Hereditary hyperekplexia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.