| Variant ID | 22001 |
|---|---|
| Entrez Gene ID | 10800 |
| Gene | CYSLTR1 (GeneCards) |
| Location | hg19 X:77661451-77661451
hg38 X:78405954-78405954 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.77661451 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.281947 (Deleterious) |
| FATHMM raw prediction score | 0.18591 (Tolerated) |
| Deleterious probability by DeFine | 0.0818 (Neutral) |
| Entrez Gene ID | 10800 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYSLTR1 (GeneCards) |
| Number of variants in CYSLTR1 in this database | 2 (view all the variants) |
| Full name | cysteinyl leukotriene receptor 1 |
| Band | Xq21.1 |
| Other IDs | Vega: OTTHUMG00000021889 OMIM: 300201 HGNC: HGNC:17451 Ensembl: ENSG00000173198 |
| Other names | CYSLT1, CYSLTR, CYSLT1R, HMTMF81 |
| Summary | This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for cysteinyl leukotrienes, and is involved in mediating bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system. Activation of the encoded receptor results in contraction and proliferation of bronchial smooth muscle cells, eosinophil migration, and damage to the mucus layer in the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |