| Variant ID | 18627 |
|---|---|
| Entrez Gene ID | 9628 |
| Gene | RGS6 (GeneCards) |
| Location | hg19 14:72541351-72541351
hg38 14:72074634-72074634 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.72541351 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1967 |
| CADD Raw score (version 1.3) | -0.194944 (Deleterious) |
| FATHMM raw prediction score | 0.1033 (Tolerated) |
| Deleterious probability by DeFine | 0.329 (Neutral) |
| Entrez Gene ID | 9628 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RGS6 (GeneCards) |
| Number of variants in RGS6 in this database | 8 (view all the variants) |
| Full name | regulator of G protein signaling 6 |
| Band | 14q24.2 |
| Other IDs | Vega: OTTHUMG00000171340 OMIM: 603894 HGNC: HGNC:10002 Ensembl: ENSG00000182732 |
| Other names | GAP, S914, HA117 |
| Summary | This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female 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; |