| Variant ID | 12929 |
|---|---|
| Entrez Gene ID | 5998 |
| Gene | RGS3 (GeneCards) |
| Location | hg19 9:116464677-116464677
hg38 9:113702397-113702397 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.116464677 A>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0474 |
| CADD Raw score (version 1.3) | 0.06993 (Deleterious) |
| FATHMM raw prediction score | 0.15587 (Tolerated) |
| Deleterious probability by DeFine | 0.8074 (Deleterious) |
| Entrez Gene ID | 5998 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RGS3 (GeneCards) |
| Number of variants in RGS3 in this database | 11 (view all the variants) |
| Full name | regulator of G protein signaling 3 |
| Band | 9q32 |
| Other IDs | Vega: OTTHUMG00000021048 OMIM: 602189 HGNC: HGNC:9999 Ensembl: ENSG00000138835 |
| Other names | C2PA, RGP3 |
| Summary | This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013] |
| 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; |