| Variant ID | 7134 |
|---|---|
| Entrez Gene ID | 6870 |
| Gene | TACR3 (GeneCards) |
| Location | hg19 4:104773763-104773763
hg38 4:103852606-103852606 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.104773763 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2474 |
| CADD Raw score (version 1.3) | 0.079161 (Deleterious) |
| FATHMM raw prediction score | 0.06464 (Tolerated) |
| Deleterious probability by DeFine | 0.1889 (Neutral) |
| Entrez Gene ID | 6870 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TACR3 (GeneCards) |
| Number of variants in TACR3 in this database | 11 (view all the variants) |
| Full name | tachykinin receptor 3 |
| Band | 4q24 |
| Other IDs | Vega: OTTHUMG00000131124 OMIM: 162332 HGNC: HGNC:11528 Ensembl: ENSG00000169836 |
| Other names | NK3, NKR, HH11, NK3R, NK-3R, TAC3R, TAC3RL |
| Summary | This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |