| Variant ID | 15901 |
|---|---|
| Entrez Gene ID | 2900 |
| Gene | GRIK4 (GeneCards) |
| Location | hg19 11:120557048-120557048
hg38 11:120686339-120686339 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.120557048 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.624993 (Deleterious) |
| FATHMM raw prediction score | 0.47772 (Tolerated) |
| Deleterious probability by DeFine | 0.455 (Neutral) |
| Entrez Gene ID | 2900 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRIK4 (GeneCards) |
| Number of variants in GRIK4 in this database | 7 (view all the variants) |
| Full name | glutamate ionotropic receptor kainate type subunit 4 |
| Band | 11q23.3 |
| Other IDs | Vega: OTTHUMG00000048255 OMIM: 600282 HGNC: HGNC:4582 Ensembl: ENSG00000149403 |
| Other names | KA1, EAA1, GRIK, GlK4 |
| Summary | This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
| 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; |