| Variant ID | 20328 |
|---|---|
| Entrez Gene ID | 8715 |
| Gene | NOL4 (GeneCards) |
| Location | hg19 18:31431352-31431352
hg38 18:33851388-33851388 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.31431352 A>G (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4946 |
| CADD Raw score (version 1.3) | 0.426262 (Deleterious) |
| FATHMM raw prediction score | 0.97574 (Tolerated) |
| Deleterious probability by DeFine | 0.9613 (Deleterious) |
| Entrez Gene ID | 8715 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NOL4 (GeneCards) |
| Number of variants in NOL4 in this database | 6 (view all the variants) |
| Full name | nucleolar protein 4 |
| Band | 18q12.1 |
| Other IDs | Vega: OTTHUMG00000132291 OMIM: 603577 HGNC: HGNC:7870 Ensembl: ENSG00000101746 |
| Other names | NOLP, CT125, HRIHFB2255 |
| Summary | None |
| Individual ID | 29217584.08 (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; |