| Variant ID | 21083 |
|---|---|
| Entrez Gene ID | 90353 |
| Gene | CTU1 (GeneCards) |
| Location | hg19 19:51605314-51605314
hg38 19:51102057-51102057 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.51605314 G>C (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6869 |
| CADD Raw score (version 1.3) | -0.676281 (Deleterious) |
| FATHMM raw prediction score | 0.05474 (Tolerated) |
| Deleterious probability by DeFine | 0.4718 (Neutral) |
| Entrez Gene ID | 90353 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTU1 (GeneCards) |
| Number of variants in CTU1 in this database | 1 (view all the variants) |
| Full name | cytosolic thiouridylase subunit 1 |
| Band | 19q13.41 |
| Other IDs | Vega: OTTHUMG00000182910 OMIM: 612694 HGNC: HGNC:29590 Ensembl: ENSG00000142544 |
| Other names | NCS6, ATPBD3 |
| Summary | None |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |