| Variant ID | 7534 |
|---|---|
| Entrez Gene ID | 83594 |
| Gene | NUDT12 (GeneCards) |
| Location | hg19 5:103737795-103737795
hg38 5:104402094-104402094 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.103737795 G>C (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4347 |
| CADD Raw score (version 1.3) | 1.404593 (Deleterious) |
| FATHMM raw prediction score | 0.19077 (Tolerated) |
| Deleterious probability by DeFine | 0.4088 (Neutral) |
| Entrez Gene ID | 83594 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NUDT12 (GeneCards) |
| Number of variants in NUDT12 in this database | 13 (view all the variants) |
| Full name | nudix hydrolase 12 |
| Band | 5q21.2 |
| Other IDs | Vega: OTTHUMG00000128739 OMIM: 609232 HGNC: HGNC:18826 Ensembl: ENSG00000112874 |
| Other names | None |
| Summary | Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008] |
| 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; |