| Variant ID | 943 |
|---|---|
| Entrez Gene ID | 2903 |
| Gene | GRIN2A (GeneCards) |
| Location | hg19 16:9916123-9916123
hg38 16:9822266-9822266 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.9916123 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 722 |
| Amino acid changes in protein | T > T |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6002272 |
| Variant occurences in COSMIC | 1(prostate) |
| EIGEN score | -0.0209 |
| CADD Raw score (version 1.3) | 0.778665 (Deleterious) |
| FATHMM raw prediction score | 0.092 (Tolerated) |
| Deleterious probability by DeFine | 0.8584 (Deleterious) |
| Entrez Gene ID | 2903 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRIN2A (GeneCards) |
| Number of variants in GRIN2A in this database | 66 (view all the variants) |
| Full name | glutamate ionotropic receptor NMDA type subunit 2A |
| Band | 16p13.2 |
| Other IDs | Vega: OTTHUMG00000129721 OMIM: 138253 HGNC: HGNC:4585 Ensembl: ENSG00000183454 |
| Other names | LKS, EPND, FESD, NR2A, GlN2A, NMDAR2A |
| Summary | This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |