| Variant ID | 8840 |
|---|---|
| Entrez Gene ID | 3350 |
| Gene | HTR1A (GeneCards) |
| Location | hg19 5:63402929-63402929
hg38 5:64107102-64107102 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.63402929 T>C (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 | -0.7703 |
| CADD Raw score (version 1.3) | -0.258363 (Deleterious) |
| FATHMM raw prediction score | 0.03134 (Tolerated) |
| Deleterious probability by DeFine | 0.1272 (Neutral) |
| Entrez Gene ID | 3350 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HTR1A (GeneCards) |
| Number of variants in HTR1A in this database | 6 (view all the variants) |
| Full name | 5-hydroxytryptamine receptor 1A |
| Band | 5q12.3 |
| Other IDs | Vega: OTTHUMG00000162279 OMIM: 109760 HGNC: HGNC:5286 Ensembl: ENSG00000178394 |
| Other names | G-21, 5HT1a, PFMCD, 5-HT1A, 5-HT-1A, ADRBRL1, ADRB2RL1 |
| Summary | This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |