| Variant ID | 8718 |
|---|---|
| Entrez Gene ID | 3360 |
| Gene | HTR4 (GeneCards) |
| Location | hg19 5:147883838-147883838
hg38 5:148504275-148504275 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.147883838 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3927 |
| CADD Raw score (version 1.3) | -0.100835 (Deleterious) |
| FATHMM raw prediction score | 0.05824 (Tolerated) |
| Deleterious probability by DeFine | 0.0889 (Neutral) |
| Entrez Gene ID | 3360 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HTR4 (GeneCards) |
| Number of variants in HTR4 in this database | 7 (view all the variants) |
| Full name | 5-hydroxytryptamine receptor 4 |
| Band | 5q32 |
| Other IDs | Vega: OTTHUMG00000129931 OMIM: 602164 HGNC: HGNC:5299 Ensembl: ENSG00000164270 |
| Other names | 5-HT4, 5-HT4R |
| Summary | This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010] |
| 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; |