| Variant ID | 13639 |
|---|---|
| Entrez Gene ID | 116443 |
| Gene | GRIN3A (GeneCards) |
| Location | hg19 9:104530688-104530688
hg38 9:101768406-101768406 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.104530688 C>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1099 |
| CADD Raw score (version 1.3) | -0.039732 (Deleterious) |
| FATHMM raw prediction score | 0.10746 (Tolerated) |
| Deleterious probability by DeFine | 0.4021 (Neutral) |
| Entrez Gene ID | 116443 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRIN3A (GeneCards) |
| Number of variants in GRIN3A in this database | 25 (view all the variants) |
| Full name | glutamate ionotropic receptor NMDA type subunit 3A |
| Band | 9q31.1 |
| Other IDs | Vega: OTTHUMG00000020387 OMIM: 606650 HGNC: HGNC:16767 Ensembl: ENSG00000198785 |
| Other names | NR3A, GlN3A, NMDAR-L |
| Summary | This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008] |
| 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; |