| Variant ID | 6068 |
|---|---|
| Entrez Gene ID | 132789 |
| Gene | GNPDA2 (GeneCards) |
| Location | hg19 4:44865733-44865733
hg38 4:44863716-44863716 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.44865733 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2392 |
| CADD Raw score (version 1.3) | 0.200012 (Deleterious) |
| FATHMM raw prediction score | 0.15518 (Tolerated) |
| Deleterious probability by DeFine | 0.5694 (Deleterious) |
| Entrez Gene ID | 132789 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GNPDA2 (GeneCards) |
| Number of variants in GNPDA2 in this database | 21 (view all the variants) |
| Full name | glucosamine-6-phosphate deaminase 2 |
| Band | 4p12 |
| Other IDs | Vega: OTTHUMG00000099415 OMIM: 613222 HGNC: HGNC:21526 Ensembl: ENSG00000163281 |
| Other names | GNP2, SB52 |
| Summary | The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] |
| 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; |