| Variant ID | 14240 |
|---|---|
| Entrez Gene ID | 3098 |
| Gene | HK1 (GeneCards) |
| Location | hg19 10:71038150-71038150
hg38 10:69278394-69278394 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.71038150 C>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0038 |
| CADD Raw score (version 1.3) | 0.38266 (Deleterious) |
| FATHMM raw prediction score | 0.14667 (Tolerated) |
| Deleterious probability by DeFine | 0.7313 (Deleterious) |
| Entrez Gene ID | 3098 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HK1 (GeneCards) |
| Number of variants in HK1 in this database | 2 (view all the variants) |
| Full name | hexokinase 1 |
| Band | 10q22.1 |
| Other IDs | Vega: OTTHUMG00000018380 OMIM: 142600 HGNC: HGNC:4922 Ensembl: ENSG00000156515 |
| Other names | HK, HKD, HKI, HXK1, RP79, HMSNR, HK1-ta, HK1-tb, HK1-tc, hexokinase |
| Summary | Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016] |
| Individual ID | 29217584.09 (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; |