| Variant ID | 10413 |
|---|---|
| Entrez Gene ID | 27010 |
| Gene | TPK1 (GeneCards) |
| Location | hg19 7:144929210-144929210
hg38 7:145232117-145232117 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.144929210 G>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0347 |
| CADD Raw score (version 1.3) | -0.159159 (Deleterious) |
| FATHMM raw prediction score | 0.11208 (Tolerated) |
| Deleterious probability by DeFine | 0.6061 (Deleterious) |
| Entrez Gene ID | 27010 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPK1 (GeneCards) |
| Number of variants in TPK1 in this database | 27 (view all the variants) |
| Full name | thiamin pyrophosphokinase 1 |
| Band | 7q35 |
| Other IDs | Vega: OTTHUMG00000152774 OMIM: 606370 HGNC: HGNC:17358 Ensembl: ENSG00000196511 |
| Other names | PP20, HTPK1, THMD5 |
| Summary | The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017] |
| Individual ID | 29217584.03 (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; |