| Variant ID | 11413 |
|---|---|
| Entrez Gene ID | 2918 |
| Gene | GRM8 (GeneCards) |
| Location | hg19 7:126258974-126258974
hg38 7:126618920-126618920 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.126258974 T>C (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7158 |
| CADD Raw score (version 1.3) | -0.346825 (Deleterious) |
| FATHMM raw prediction score | 0.04351 (Tolerated) |
| Deleterious probability by DeFine | 0.0795 (Neutral) |
| Entrez Gene ID | 2918 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRM8 (GeneCards) |
| Number of variants in GRM8 in this database | 8 (view all the variants) |
| Full name | glutamate metabotropic receptor 8 |
| Band | 7q31.33 |
| Other IDs | Vega: OTTHUMG00000022888 OMIM: 601116 HGNC: HGNC:4600 Ensembl: ENSG00000179603 |
| Other names | GLUR8, mGl8, GPRC1H, MGLUR8 |
| Summary | L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] |
| 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; |