| Variant ID | 23957 |
|---|---|
| Entrez Gene ID | 643542 |
| Gene | LOC643542 (GeneCards) |
| Location | hg19 18:65985801-65985801
hg38 18:68318564-68318564 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000018.9:g.65985801 T>C (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3169 |
| CADD Raw score (version 1.3) | 0.813922 (Deleterious) |
| FATHMM raw prediction score | 0.1565 (Tolerated) |
| Deleterious probability by DeFine | 0.2549 (Neutral) |
| Entrez Gene ID | 643542 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC643542 (GeneCards) |
| Number of variants in LOC643542 in this database | 18 (view all the variants) |
| Full name | uncharacterized LOC643542 |
| Band | 18q22.1 |
| Other IDs | Ensembl: ENSG00000265533 |
| 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; |