| Variant ID | 4257 |
|---|---|
| Entrez Gene ID | 116093 |
| Gene | DIRC1 (GeneCards) |
| Location | hg19 2:189809298-189809298
hg38 2:188944572-188944572 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.189809298 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4053 |
| CADD Raw score (version 1.3) | -0.058891 (Deleterious) |
| FATHMM raw prediction score | 0.05884 (Tolerated) |
| Deleterious probability by DeFine | 0.2268 (Neutral) |
| Entrez Gene ID | 116093 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DIRC1 (GeneCards) |
| Number of variants in DIRC1 in this database | 5 (view all the variants) |
| Full name | disrupted in renal carcinoma 1 |
| Band | 2q32.2 |
| Other IDs | Vega: OTTHUMG00000132646 OMIM: 606423 HGNC: HGNC:15760 Ensembl: ENSG00000174325 |
| Other names | None |
| Summary | This gene consists of two exons and encodes a 104aa protein. Disruption of this gene by translocation t(2;3)(q33;q21) is associated with familial clear cell renal cancer. [provided by RefSeq, Sep 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; |