| Variant ID | 1657 |
|---|---|
| Entrez Gene ID | 9816 |
| Gene | URB2 (GeneCards) |
| Location | hg19 1:230179209-230179209
hg38 1:230043462-230043462 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.230179209 G>A (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1758 |
| CADD Raw score (version 1.3) | 0.294949 (Deleterious) |
| FATHMM raw prediction score | 0.22979 (Tolerated) |
| Deleterious probability by DeFine | 0.4649 (Neutral) |
| Entrez Gene ID | 9816 (NCBI Gene) |
|---|---|
| Official Gene Symbol | URB2 (GeneCards) |
| Number of variants in URB2 in this database | 3 (view all the variants) |
| Full name | URB2 ribosome biogenesis 2 homolog (S. cerevisiae) |
| Band | 1q42.13 |
| Other IDs | Vega: OTTHUMG00000039464 HGNC: HGNC:28967 Ensembl: ENSG00000135763 |
| Other names | NPA2, NET10, KIAA0133 |
| Summary | None |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |