| Variant ID | 7108 |
|---|---|
| Entrez Gene ID | 2895 |
| Gene | GRID2 (GeneCards) |
| Location | hg19 4:94743547-94743547
hg38 4:93822396-93822396 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.94743547 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4262 |
| CADD Raw score (version 1.3) | -0.388615 (Deleterious) |
| FATHMM raw prediction score | 0.08163 (Tolerated) |
| Deleterious probability by DeFine | 0.2629 (Neutral) |
| Entrez Gene ID | 2895 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRID2 (GeneCards) |
| Number of variants in GRID2 in this database | 14 (view all the variants) |
| Full name | glutamate ionotropic receptor delta type subunit 2 |
| Band | 4q22.1-q22.2 |
| Other IDs | Vega: OTTHUMG00000130975 OMIM: 602368 HGNC: HGNC:4576 Ensembl: ENSG00000152208 |
| Other names | GlD2, SCAR18 |
| Summary | The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014] |
| Individual ID | 29217584.16 (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; |