| Variant ID | 17859 |
|---|---|
| Entrez Gene ID | 57105 |
| Gene | CYSLTR2 (GeneCards) |
| Location | hg19 13:49385978-49385978
hg38 13:48811842-48811842 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.49385978 G>A (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1944 |
| CADD Raw score (version 1.3) | -0.167974 (Deleterious) |
| FATHMM raw prediction score | 0.09676 (Tolerated) |
| Deleterious probability by DeFine | 0.2707 (Neutral) |
| Entrez Gene ID | 57105 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYSLTR2 (GeneCards) |
| Number of variants in CYSLTR2 in this database | 5 (view all the variants) |
| Full name | cysteinyl leukotriene receptor 2 |
| Band | 13q14.2 |
| Other IDs | Vega: OTTHUMG00000016906 OMIM: 605666 HGNC: HGNC:18274 Ensembl: ENSG00000152207 |
| Other names | HG57, CYSLT2, GPCR21, HPN321, CYSLT2R, KPG_011, hGPCR21, PSEC0146 |
| Summary | The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [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; |