| Variant ID | 23934 |
|---|---|
| Entrez Gene ID | 283982 |
| Gene | LINC00469 (GeneCards) |
| Location | hg19 17:72063222-72063222
hg38 17:74067083-74067083 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000017.10:g.72063222 G>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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5155 |
| CADD Raw score (version 1.3) | -0.494412 (Deleterious) |
| FATHMM raw prediction score | 0.09334 (Tolerated) |
| Deleterious probability by DeFine | 0.6451 (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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |