| Variant ID | 4166 |
|---|---|
| Entrez Gene ID | 79809 |
| Gene | TTC21B (GeneCards) |
| Location | hg19 2:166753347-166753347
hg38 2:165896837-165896837 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.166753347 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0212 |
| CADD Raw score (version 1.3) | 0.044689 (Deleterious) |
| FATHMM raw prediction score | 0.12654 (Tolerated) |
| Deleterious probability by DeFine | 0.3488 (Neutral) |
| 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 | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |