| Variant ID | 5228 |
|---|---|
| Entrez Gene ID | 645206 |
| Gene | LINC00693 (GeneCards) |
| Location | hg19 3:29043382-29043382
hg38 3:29001891-29001891 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.29043382 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4787 |
| CADD Raw score (version 1.3) | -0.233375 (Deleterious) |
| FATHMM raw prediction score | 0.04754 (Tolerated) |
| Deleterious probability by DeFine | 0.2496 (Neutral) |
| Entrez Gene ID | 645206 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LINC00693 (GeneCards) |
| Number of variants in LINC00693 in this database | 12 (view all the variants) |
| Full name | long intergenic non-protein coding RNA 693 |
| Band | 3p24.1 |
| Other IDs | HGNC: HGNC:44526 |
| Other names | None |
| Summary | None |
| 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; |