| Variant ID | 22007 |
|---|---|
| Entrez Gene ID | 9248 |
| Gene | GPR50 (GeneCards) |
| Location | hg19 X:150443447-150443447
hg38 X:151274975-151274975 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.150443447 G>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.079613 (Deleterious) |
| FATHMM raw prediction score | 0.11116 (Tolerated) |
| Deleterious probability by DeFine | 0.2002 (Neutral) |
| Entrez Gene ID | 9248 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPR50 (GeneCards) |
| Number of variants in GPR50 in this database | 3 (view all the variants) |
| Full name | G protein-coupled receptor 50 |
| Band | Xq28 |
| Other IDs | Vega: OTTHUMG00000024166 OMIM: 300207 HGNC: HGNC:4506 Ensembl: ENSG00000102195 |
| Other names | H9, Mel1c |
| Summary | This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010] |
| Individual ID | 29217584.03 (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; |