| Variant ID | 5172 |
|---|---|
| Entrez Gene ID | 647107 |
| Gene | LINC01192 (GeneCards) |
| Location | hg19 3:163454632-163454632
hg38 3:163736844-163736844 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.163454632 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 | -0.0811 |
| CADD Raw score (version 1.3) | 0.972852 (Deleterious) |
| FATHMM raw prediction score | 0.06952 (Tolerated) |
| Deleterious probability by DeFine | 0.1648 (Neutral) |
| Entrez Gene ID | 647107 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LINC01192 (GeneCards) |
| Number of variants in LINC01192 in this database | 16 (view all the variants) |
| Full name | long intergenic non-protein coding RNA 1192 |
| Band | 3q26.1 |
| Other IDs | HGNC: HGNC:37197 Ensembl: ENSG00000241369 |
| Other names | CT64 |
| 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; |