| Variant ID | 1554 |
|---|---|
| Entrez Gene ID | 256536 |
| Gene | TCERG1L (GeneCards) |
| Location | hg19 10:132944875-132944875
hg38 10:131146612-131146612 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000010.10:g.132944875_132944875 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_174937.3 |
| mRNA length | 2632 |
| Reference length | 135534747 |
| Deleterious probability by DeFine | 0.9269 (Deleterious) |
|---|
| 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 | 28867142.57 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |