Overview

Variant ID 29026
Entrez Gene ID 10800
Gene CYSLTR1 (GeneCards)
Location hg19 X:77658416-77658416
hg38 X:78402919-78402919
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000023.10:g.77658416 G>T (Genome Assembly: GRCh37)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) -0.202146 (Deleterious)
FATHMM raw prediction score 0.04297 (Tolerated)
Deleterious probability by DeFine 0.0437 (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 #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID