| Variant ID | 21133 |
|---|---|
| Entrez Gene ID | 146 |
| Gene | ADRA1D (GeneCards) |
| Location | hg19 20:4655990-4655990
hg38 20:4675344-4675344 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.4655990 T>G (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2169 |
| CADD Raw score (version 1.3) | -0.128204 (Deleterious) |
| FATHMM raw prediction score | 0.11862 (Tolerated) |
| Deleterious probability by DeFine | 0.3063 (Neutral) |
| Entrez Gene ID | 146 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADRA1D (GeneCards) |
| Number of variants in ADRA1D in this database | 11 (view all the variants) |
| Full name | adrenoceptor alpha 1D |
| Band | 20p13 |
| Other IDs | Vega: OTTHUMG00000031779 OMIM: 104219 HGNC: HGNC:280 Ensembl: ENSG00000171873 |
| Other names | DAR, ADRA1, ADRA1A, ADRA1R, ALPHA1, dJ779E11.2 |
| Summary | Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |