Gene entry
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
- Chromosome
- 12
- Cytoband
- 12p13.1
- Variants (rsID)
- 125
GRIN2B is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p13.1). Its official name is “glutamate ionotropic receptor NMDA type subunit 2B”. The reference table lists 125 variants (rsID) for this gene.
Clinically classified variants
22 reference-table entries with clinical significance.
- rs141886903Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6
- rs145005918Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6|History of neurodevelopmental disorder
- rs146792012Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6
- rs148573953Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6
- rs150070901Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6
- rs1805482Benignsingle nucleotide variantIntellectual disability, autosomal dominant 6|History of neurodevelopmental disorder|Intellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27|Developmental and epileptic encephalopathy, 27
- rs1806191Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27|Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6
- rs1806200Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27
- rs1806201Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27
- rs189384622Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6|History of neurodevelopmental disorder
- rs199710029Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6
- rs45600931Benignsingle nucleotide variantIntellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6|History of neurodevelopmental disorder
- rs772364390Benignsingle nucleotide variantIntellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27|History of neurodevelopmental disorder
- rs78765966Benignsingle nucleotide variantIntellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27
- rs890Benignsingle nucleotide variant
- rs147373250Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6|Intellectual disability, autosomal dominant 6|History of neurodevelopmental disorder
- rs200608452Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27
- rs202223470Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 6|Developmental and epileptic encephalopathy, 27|History of neurodevelopmental disorder
- rs375217280Conflicting interpretationssingle nucleotide variant
- rs140573925Likely benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6
- rs201554036Likely benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6
- rs876661219Pathogenicsingle nucleotide variantAtaxia|intellectual deficiency|Intellectual disability, autosomal dominant 6
Other listed variants
- rs219884
- rs219909
- rs219911
- rs219922
- rs220583
- rs220597
- rs764525
- rs765688
- rs888150
- rs1019385
- rs1072388
- rs1075010
- rs1805502
- rs1805503
- rs1805545
- rs1805552
- rs1806194
- rs1806202
- rs1861452
- rs2032713
- rs2058878
- rs2160733
- rs2160734
- rs2192976
- rs2193146
- rs2193512
- rs2193513
- rs2268102
- rs2284402
- rs2284411
- rs2284424
- rs2300250
- rs2300252
- rs3026167
- rs4764011
- rs4764026
- rs4764027
- rs4764030
- rs6488619
- rs7297101
- rs7297761
- rs7298664
- rs7301500
- rs9788202
- rs9988991
- rs10466773
- rs10492137
- rs10772704
- rs10772713
- rs10845853
- rs11055553
- rs11055590
- rs11055612
- rs11055620
- rs11055628
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.