| Variant ID | 20712 |
|---|---|
| Entrez Gene ID | 2587 |
| Gene | GALR1 (GeneCards) |
| Location | hg19 18:75476473-75476473
hg38 18:77764517-77764517 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.75476473 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1324 |
| CADD Raw score (version 1.3) | -0.264704 (Deleterious) |
| FATHMM raw prediction score | 0.14536 (Tolerated) |
| Deleterious probability by DeFine | 0.5716 (Deleterious) |
| Entrez Gene ID | 2587 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GALR1 (GeneCards) |
| Number of variants in GALR1 in this database | 10 (view all the variants) |
| Full name | galanin receptor 1 |
| Band | 18q23 |
| Other IDs | Vega: OTTHUMG00000132875 OMIM: 600377 HGNC: HGNC:4132 Ensembl: ENSG00000166573 |
| Other names | GALNR, GALNR1 |
| Summary | The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008] |
| 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; |