| Variant ID | 23507 |
|---|---|
| Entrez Gene ID | 256536 |
| Gene | TCERG1L (GeneCards) |
| Location | hg19 10:132991897-132991897
hg38 10:131193634-131193634 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000010.10:g.132991897 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.601358 (Deleterious) |
| FATHMM raw prediction score | 0.05439 (Tolerated) |
| Deleterious probability by DeFine | 0.1264 (Neutral) |
| Entrez Gene ID | 256536 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TCERG1L (GeneCards) |
| Number of variants in TCERG1L in this database | 11 (view all the variants) |
| Full name | transcription elongation regulator 1 like |
| Band | 10q26.3 |
| Other IDs | Vega: OTTHUMG00000019276 HGNC: HGNC:23533 Ensembl: ENSG00000176769 |
| 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; |