| Variant ID | 19800 |
|---|---|
| Entrez Gene ID | 283982 |
| Gene | LINC00469 (GeneCards) |
| Location | hg19 17:71766657-71766657
hg38 17:73770518-73770518 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.71766657 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5811 |
| CADD Raw score (version 1.3) | -0.181942 (Deleterious) |
| FATHMM raw prediction score | 0.23536 (Tolerated) |
| Deleterious probability by DeFine | 0.8641 (Deleterious) |
| Entrez Gene ID | 283982 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LINC00469 (GeneCards) |
| Number of variants in LINC00469 in this database | 7 (view all the variants) |
| Full name | long intergenic non-protein coding RNA 469 |
| Band | 17q25.1 |
| Other IDs | HGNC: HGNC:26863 |
| Other names | C17orf54 |
| 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; |