| Variant ID | 4270 |
|---|---|
| Entrez Gene ID | 6869 |
| Gene | TACR1 (GeneCards) |
| Location | hg19 2:75332444-75332444
hg38 2:75105317-75105317 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.75332444 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3922 |
| CADD Raw score (version 1.3) | 0.065368 (Deleterious) |
| FATHMM raw prediction score | 0.05561 (Tolerated) |
| Deleterious probability by DeFine | 0.2861 (Neutral) |
| Entrez Gene ID | 6869 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TACR1 (GeneCards) |
| Number of variants in TACR1 in this database | 8 (view all the variants) |
| Full name | tachykinin receptor 1 |
| Band | 2p12 |
| Other IDs | Vega: OTTHUMG00000129973 OMIM: 162323 HGNC: HGNC:11526 Ensembl: ENSG00000115353 |
| Other names | SPR, NK1R, NKIR, TAC1R |
| Summary | This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008] |
| Individual ID | 29217584.16 (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; |