| Variant ID | 1571 |
|---|---|
| Entrez Gene ID | 79809 |
| Gene | TTC21B (GeneCards) |
| Location | hg19 2:166788316-166788316
hg38 2:165931806-165931806 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000002.11:g.166788316_166788316 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_024753.4 |
| mRNA length | 5491 |
| Reference length | 243199373 |
| Deleterious probability by DeFine | 0.8678 (Deleterious) |
|---|
| Entrez Gene ID | 79809 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TTC21B (GeneCards) |
| Number of variants in TTC21B in this database | 4 (view all the variants) |
| Full name | tetratricopeptide repeat domain 21B |
| Band | 2q24.3 |
| Other IDs | Vega: OTTHUMG00000154083 OMIM: 612014 HGNC: HGNC:25660 Ensembl: ENSG00000123607 |
| Other names | ATD4, THM1, SRTD4, IFT139, JBTS11, NPHP12, IFT139B, Nbla10696 |
| Summary | This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011] |
| Individual ID | 28867142.32 (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; |