| Variant ID | 10073 |
|---|---|
| Entrez Gene ID | 83732 |
| Gene | RIOK1 (GeneCards) |
| Location | hg19 6:7456044-7456044
hg38 6:7455811-7455811 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.7456044 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.0236 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs144229141 |
| EIGEN score | -0.5171 |
| CADD Raw score (version 1.3) | -0.412482 (Deleterious) |
| FATHMM raw prediction score | 0.04465 (Tolerated) |
| Deleterious probability by DeFine | 0.2858 (Neutral) |
| Entrez Gene ID | 83732 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RIOK1 (GeneCards) |
| Number of variants in RIOK1 in this database | 4 (view all the variants) |
| Full name | RIO kinase 1 |
| Band | 6p24.3 |
| Other IDs | Vega: OTTHUMG00000014207 OMIM: 617753 HGNC: HGNC:18656 Ensembl: ENSG00000124784 |
| Other names | RIO1, AD034, RRP10, bA288G3.1 |
| Summary | The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017] |
| 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; |