| Variant ID | 21648 |
|---|---|
| Entrez Gene ID | 2897 |
| Gene | GRIK1 (GeneCards) |
| Location | hg19 21:31321951-31321951
hg38 21:29949633-29949633 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.31321951 A>T (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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4582 |
| CADD Raw score (version 1.3) | -0.381665 (Deleterious) |
| FATHMM raw prediction score | 0.07926 (Tolerated) |
| Deleterious probability by DeFine | 0.6065 (Deleterious) |
| Entrez Gene ID | 2897 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRIK1 (GeneCards) |
| Number of variants in GRIK1 in this database | 7 (view all the variants) |
| Full name | glutamate ionotropic receptor kainate type subunit 1 |
| Band | 21q21.3 |
| Other IDs | Vega: OTTHUMG00000078879 OMIM: 138245 HGNC: HGNC:4579 Ensembl: ENSG00000171189 |
| Other names | EAA3, EEA3, GLR5, GLUR5, GlK1, glR-5 |
| Summary | Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |