| Variant ID | 2895 |
|---|---|
| Entrez Gene ID | 25780 |
| Gene | RASGRP3 (GeneCards) |
| Location | hg19 2:33699978-33699978
hg38 2:33474911-33474911 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.33699978 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1424 |
| CADD Raw score (version 1.3) | -0.001472 (Deleterious) |
| FATHMM raw prediction score | 0.12369 (Tolerated) |
| Deleterious probability by DeFine | 0.4308 (Neutral) |
| Entrez Gene ID | 25780 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RASGRP3 (GeneCards) |
| Number of variants in RASGRP3 in this database | 4 (view all the variants) |
| Full name | RAS guanyl releasing protein 3 |
| Band | 2p22.3 |
| Other IDs | Vega: OTTHUMG00000152124 OMIM: 609531 HGNC: HGNC:14545 Ensembl: ENSG00000152689 |
| Other names | GRP3 |
| Summary | The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017] |
| Individual ID | 29217584.02 (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; |