| Variant ID | 10147 |
|---|---|
| Entrez Gene ID | 1268 |
| Gene | CNR1 (GeneCards) |
| Location | hg19 6:89149779-89149779
hg38 6:88440060-88440060 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.89149779 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2628 |
| CADD Raw score (version 1.3) | -0.158736 (Deleterious) |
| FATHMM raw prediction score | 0.07698 (Tolerated) |
| Deleterious probability by DeFine | 0.1197 (Neutral) |
| Entrez Gene ID | 1268 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNR1 (GeneCards) |
| Number of variants in CNR1 in this database | 6 (view all the variants) |
| Full name | cannabinoid receptor 1 |
| Band | 6q15 |
| Other IDs | Vega: OTTHUMG00000015184 OMIM: 114610 HGNC: HGNC:2159 Ensembl: ENSG00000118432 |
| Other names | CB1, CNR, CB-R, CB1A, CB1R, CANN6, CB1K5 |
| Summary | This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009] |
| 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; |