| Variant ID | 629 |
|---|---|
| Entrez Gene ID | 3360 |
| Gene | HTR4 (GeneCards) |
| Location | hg19 5:147855052-147855052
hg38 5:148475489-148475489 |
| Disease | Intellectual Disability (view all the variants in this disease) |
| Method | CG |
| Mutation(HGVS format) | NC_000005.9:g.147855052 G>A (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001040169.2 |
| mRNA length | 1364 |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1035 |
| CADD Raw score (version 1.3) | -0.141805 (Deleterious) |
| FATHMM raw prediction score | 0.15969 (Tolerated) |
| Deleterious probability by DeFine | 0.4316 (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 | 26054435.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 26054435 |
| Whose mosaic mutation | Patient |
| Origin of mosaic mutation in patients | Paternal |
| Phenotype | 3 |
| Disease | Intellectual Disability (view all the variants in this disease) |
| OMIM ID | 602164 |
| Pubmed ID | 26054435 |
|---|---|
| Title | Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. |
| Journal | American Journal of Human Genetics |
| Publication date | 2015.07 |
| Disease | Intellectual Disability |