| Variant ID | 8589 |
|---|---|
| Entrez Gene ID | 22836 |
| Gene | RHOBTB3 (GeneCards) |
| Location | hg19 5:95099655-95099655
hg38 5:95763951-95763951 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.95099655 A>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.168 |
| CADD Raw score (version 1.3) | -0.368395 (Deleterious) |
| FATHMM raw prediction score | 0.17339 (Tolerated) |
| Deleterious probability by DeFine | 0.3047 (Neutral) |
| Entrez Gene ID | 22836 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RHOBTB3 (GeneCards) |
| Number of variants in RHOBTB3 in this database | 1 (view all the variants) |
| Full name | Rho related BTB domain containing 3 |
| Band | 5q15 |
| Other IDs | Vega: OTTHUMG00000121171 OMIM: 607353 HGNC: HGNC:18757 Ensembl: ENSG00000164292 |
| Other names | None |
| Summary | RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004] |
| 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; |