| Variant ID | 23758 |
|---|---|
| Entrez Gene ID | 144920 |
| Gene | LINC00343 (GeneCards) |
| Location | hg19 13:106541305-106541305
hg38 13:105888956-105888956 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000013.10:g.106541305 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2807 |
| CADD Raw score (version 1.3) | 0.125647 (Deleterious) |
| FATHMM raw prediction score | 0.11141 (Tolerated) |
| Deleterious probability by DeFine | 0.0818 (Neutral) |
| Entrez Gene ID | 144920 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LINC00343 (GeneCards) |
| Number of variants in LINC00343 in this database | 10 (view all the variants) |
| Full name | long intergenic non-protein coding RNA 343 |
| Band | 13q33.2 |
| Other IDs | HGNC: HGNC:42500 |
| Other names | LINC00344, NCRNA00343, NCRNA00344 |
| 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; |