| Variant ID | 15799 |
|---|---|
| Entrez Gene ID | 22800 |
| Gene | RRAS2 (GeneCards) |
| Location | hg19 11:14358825-14358825
hg38 11:14337279-14337279 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.14358825 C>T (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0626 |
| CADD Raw score (version 1.3) | -0.307383 (Deleterious) |
| FATHMM raw prediction score | 0.24605 (Tolerated) |
| Deleterious probability by DeFine | 0.1105 (Neutral) |
| Entrez Gene ID | 22800 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RRAS2 (GeneCards) |
| Number of variants in RRAS2 in this database | 3 (view all the variants) |
| Full name | RAS related 2 |
| Band | 11p15.2 |
| Other IDs | Vega: OTTHUMG00000165756 OMIM: 600098 HGNC: HGNC:17271 Ensembl: ENSG00000133818 |
| Other names | TC21 |
| Summary | This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] |
| Individual ID | 29217584.16 (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; |