| Variant ID | 19212 |
|---|---|
| Entrez Gene ID | 83440 |
| Gene | ADPGK (GeneCards) |
| Location | hg19 15:73052854-73052854
hg38 15:72760513-72760513 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.73052854 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2886 |
| CADD Raw score (version 1.3) | 1.198789 (Deleterious) |
| FATHMM raw prediction score | 0.90875 (Tolerated) |
| Deleterious probability by DeFine | 0.8615 (Deleterious) |
| Entrez Gene ID | 83440 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADPGK (GeneCards) |
| Number of variants in ADPGK in this database | 1 (view all the variants) |
| Full name | ADP dependent glucokinase |
| Band | 15q24.1 |
| Other IDs | Vega: OTTHUMG00000172777 OMIM: 611861 HGNC: HGNC:25250 Ensembl: ENSG00000159322 |
| Other names | ADP-GK, 2610017G09Rik |
| Summary | ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |