| Variant ID | 24038 |
|---|---|
| Entrez Gene ID | 339568 |
| Gene | LOC339568 (GeneCards) |
| Location | hg19 20:37972947-37972947
hg38 20:39344304-39344304 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000020.10:g.37972947 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1975 |
| CADD Raw score (version 1.3) | 0.090489 (Deleterious) |
| FATHMM raw prediction score | 0.07848 (Tolerated) |
| Deleterious probability by DeFine | 0.1272 (Neutral) |
| Entrez Gene ID | 339568 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC339568 (GeneCards) |
| Number of variants in LINC01734 in this database | 7 (view all the variants) |
| Full name | long intergenic non-protein coding RNA 1734 |
| Band | 20q12 |
| Other IDs | HGNC: HGNC:52522 Ensembl: ENSG00000230324 |
| Other names | None |
| 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; |