| Variant ID | 16966 |
|---|---|
| Entrez Gene ID | 2904 |
| Gene | GRIN2B (GeneCards) |
| Location | hg19 12:14116784-14116784
hg38 12:13963850-13963850 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.14116784 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3893 |
| CADD Raw score (version 1.3) | 0.325956 (Deleterious) |
| FATHMM raw prediction score | 0.368 (Tolerated) |
| Deleterious probability by DeFine | 0.6836 (Deleterious) |
| Entrez Gene ID | 2904 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRIN2B (GeneCards) |
| Number of variants in GRIN2B in this database | 13 (view all the variants) |
| Full name | glutamate ionotropic receptor NMDA type subunit 2B |
| Band | 12p13.1 |
| Other IDs | Vega: OTTHUMG00000137373 OMIM: 138252 HGNC: HGNC:4586 Ensembl: ENSG00000273079 |
| Other names | NR3, MRD6, NR2B, hNR3, EIEE27, GlN2B, NMDAR2B |
| Summary | This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |