| Variant ID | 25701 |
|---|---|
| Entrez Gene ID | 83894 |
| Gene | TTC29 (GeneCards) |
| Location | hg19 4:147993309-147993309
hg38 4:147072157-147072157 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.147993309 A>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4828 |
| CADD Raw score (version 1.3) | -0.329609 (Deleterious) |
| FATHMM raw prediction score | 0.12438 (Tolerated) |
| Deleterious probability by DeFine | 0.258 (Neutral) |
| Entrez Gene ID | 83894 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TTC29 (GeneCards) |
| Number of variants in TTC29 in this database | 5 (view all the variants) |
| Full name | tetratricopeptide repeat domain 29 |
| Band | 4q31.22 |
| Other IDs | Vega: OTTHUMG00000162047 HGNC: HGNC:29936 Ensembl: ENSG00000137473 |
| Other names | TBPP2A, NYD-SP14 |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |