| Variant ID | 5699 |
|---|---|
| Entrez Gene ID | 6091 |
| Gene | ROBO1 (GeneCards) |
| Location | hg19 3:80724078-80724078
hg38 3:80674927-80674927 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.80724078 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9253 |
| CADD Raw score (version 1.3) | 1.067388 (Deleterious) |
| FATHMM raw prediction score | 0.95198 (Tolerated) |
| Deleterious probability by DeFine | 0.8159 (Deleterious) |
| Entrez Gene ID | 6091 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ROBO1 (GeneCards) |
| Number of variants in ROBO1 in this database | 33 (view all the variants) |
| Full name | roundabout guidance receptor 1 |
| Band | 3p12.3 |
| Other IDs | Vega: OTTHUMG00000158843 OMIM: 602430 HGNC: HGNC:10249 Ensembl: ENSG00000169855 |
| Other names | SAX3, DUTT1 |
| Summary | Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
| Individual ID | 29217584.17 (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; |