| Variant ID | 29826 |
|---|---|
| Entrez Gene ID | 5998 |
| Gene | RGS3 (GeneCards) |
| Location | hg19 9:116267745-116267745
hg38 9:113505465-113505465 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000009.11:g.116267745 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 7270443 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 2.0887 |
| CADD Raw score (version 1.3) | 2.385576 (Deleterious) |
| FATHMM raw prediction score | 0.91935 (Tolerated) |
| Deleterious probability by DeFine | 0.9052 (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 | 28867142.80 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |