| Variant ID | 848 |
|---|---|
| Entrez Gene ID | 79573 |
| Gene | TTC13 (GeneCards) |
| Location | hg19 1:231047281-231047281
hg38 1:230911535-230911535 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.231047281 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 748 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4692 |
| CADD Raw score (version 1.3) | 1.00642 (Deleterious) |
| FATHMM raw prediction score | 0.97719 (Tolerated) |
| Deleterious probability by DeFine | 0.8871 (Deleterious) |
| Entrez Gene ID | 79573 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TTC13 (GeneCards) |
| Number of variants in TTC13 in this database | 2 (view all the variants) |
| Full name | tetratricopeptide repeat domain 13 |
| Band | 1q42.2 |
| Other IDs | Vega: OTTHUMG00000037788 HGNC: HGNC:26204 Ensembl: ENSG00000143643 |
| Other names | None |
| Summary | None |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |