| Variant ID | 17874 |
|---|---|
| Entrez Gene ID | 3356 |
| Gene | HTR2A (GeneCards) |
| Location | hg19 13:48118837-48118837
hg38 13:47544702-47544702 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.48118837 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8811 |
| CADD Raw score (version 1.3) | 0.794826 (Deleterious) |
| FATHMM raw prediction score | 0.91018 (Tolerated) |
| Deleterious probability by DeFine | 0.748 (Deleterious) |
| Entrez Gene ID | 3356 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HTR2A (GeneCards) |
| Number of variants in HTR2A in this database | 12 (view all the variants) |
| Full name | 5-hydroxytryptamine receptor 2A |
| Band | 13q14.2 |
| Other IDs | Vega: OTTHUMG00000016881 OMIM: 182135 HGNC: HGNC:5293 Ensembl: ENSG00000102468 |
| Other names | HTR2, 5-HT2A |
| Summary | This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
| 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; |