| Variant ID | 9151 |
|---|---|
| Entrez Gene ID | 81491 |
| Gene | GPR63 (GeneCards) |
| Location | hg19 6:97329586-97329586
hg38 6:96881710-96881710 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.97329586 T>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2796 |
| CADD Raw score (version 1.3) | 0.982005 (Deleterious) |
| FATHMM raw prediction score | 0.23863 (Tolerated) |
| Deleterious probability by DeFine | 0.2795 (Neutral) |
| Entrez Gene ID | 81491 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPR63 (GeneCards) |
| Number of variants in GPR63 in this database | 4 (view all the variants) |
| Full name | G protein-coupled receptor 63 |
| Band | 6q16.1 |
| Other IDs | Vega: OTTHUMG00000015245 OMIM: 606915 HGNC: HGNC:13302 Ensembl: ENSG00000112218 |
| Other names | PSP24B, PSP24(beta) |
| Summary | This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.06 (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; |