| Variant ID | 16120 |
|---|---|
| Entrez Gene ID | 55507 |
| Gene | GPRC5D (GeneCards) |
| Location | hg19 12:13104952-13104952
hg38 12:12952018-12952018 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.13104952 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0454 |
| CADD Raw score (version 1.3) | 0.163614 (Deleterious) |
| FATHMM raw prediction score | 0.12446 (Tolerated) |
| Deleterious probability by DeFine | 0.7225 (Deleterious) |
| Entrez Gene ID | 55507 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPRC5D (GeneCards) |
| Number of variants in GPRC5D in this database | 1 (view all the variants) |
| Full name | G protein-coupled receptor class C group 5 member D |
| Band | 12p13.1 |
| Other IDs | Vega: OTTHUMG00000168711 OMIM: 607437 HGNC: HGNC:13310 Ensembl: ENSG00000111291 |
| Other names | None |
| Summary | The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] |
| 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; |