| Variant ID | 13890 |
|---|---|
| Entrez Gene ID | 9886 |
| Gene | RHOBTB1 (GeneCards) |
| Location | hg19 10:62667069-62667069
hg38 10:60907311-60907311 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.62667069 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0556 |
| CADD Raw score (version 1.3) | 0.084584 (Deleterious) |
| FATHMM raw prediction score | 0.1263 (Tolerated) |
| Deleterious probability by DeFine | 0.5885 (Deleterious) |
| Entrez Gene ID | 9886 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RHOBTB1 (GeneCards) |
| Number of variants in RHOBTB1 in this database | 2 (view all the variants) |
| Full name | Rho related BTB domain containing 1 |
| Band | 10q21.2 |
| Other IDs | Vega: OTTHUMG00000018292 OMIM: 607351 HGNC: HGNC:18738 Ensembl: ENSG00000072422 |
| Other names | None |
| Summary | The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] |
| 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; |