GLRA2 Chromosome X
Glycine receptor alpha 2
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What This Gene Does
The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Glycine receptors
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000101958
Associated Conditions (5)
See cases
Intellectual developmental disorder
X-linked
syndromic
Pilorge type
Key Variants
RS368138282
Conflicting classifications of pathogenicity
See cases, Intellectual developmental disorder, X-linked
Health Risk
RS2146999184
Likely pathogenic
See cases, See cases
Health Risk
RS2147096455
Likely pathogenic
See cases, Intellectual developmental disorder, X-linked
Health Risk
RS370575329
Likely pathogenic
See cases, See cases
Health Risk
RS768735440
Likely pathogenic
See cases, See cases
Health Risk
RS1276905604
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS1601761445
Pathogenic
See cases, Intellectual developmental disorder, X-linked
Health Risk
RS2147065620
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS761094724
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368138282 | Health Risk | Conflicting classifications of pathogenicity | See cases, Intellectual developmental disorder, X-linked |
| RS2146999184 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2147096455 | Health Risk | Likely pathogenic | See cases, Intellectual developmental disorder, X-linked |
| RS370575329 | Health Risk | Likely pathogenic | See cases, See cases |
| RS768735440 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1276905604 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS1601761445 | Health Risk | Pathogenic | See cases, Intellectual developmental disorder, X-linked |
| RS2147065620 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS761094724 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |