| Variant ID | 14761 |
|---|---|
| Entrez Gene ID | 2869 |
| Gene | GRK5 (GeneCards) |
| Location | hg19 10:120986953-120986953
hg38 10:119227441-119227441 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.120986953 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.168402 (Deleterious) |
| FATHMM raw prediction score | 0.05946 (Tolerated) |
| Deleterious probability by DeFine | 0.1637 (Neutral) |
| Entrez Gene ID | 2869 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRK5 (GeneCards) |
| Number of variants in GRK5 in this database | 4 (view all the variants) |
| Full name | G protein-coupled receptor kinase 5 |
| Band | 10q26.11 |
| Other IDs | Vega: OTTHUMG00000019149 OMIM: 600870 HGNC: HGNC:4544 Ensembl: ENSG00000198873 |
| Other names | GPRK5 |
| Summary | This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |