GLRA1 gene homepage

General information
Gene symbol GLRA1
Gene name glycine receptor, alpha 1
Chromosome 5
Chromosomal band q33.1
Imprinted Unknown
Genomic reference NG_011764.1
Transcript reference NM_001146040.1
Exon/intron information NM_001146040.1 exon/intron table
Associated with diseases HKPX
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Ieke Ginjaar and Vincent Janmaat
Total number of public variants reported 56
Unique public DNA variants reported 30
Individuals with public variants 37
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 01, 2008
Date last updated April 15, 2018
Version GLRA1:180415

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001146040.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/GLRA1
External URL Orphanet
HGNC 4326
Entrez Gene 2741
PubMed articles GLRA1
OMIM - Gene 138491
OMIM - Diseases HKPX (hyperekplexia, hereditary (HKPX))
HGMD GLRA1
GeneCards GLRA1
GeneTests GLRA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024307 5 transcript variant 1 NM_001146040.1 NP_001139512.1 56


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