| Variant ID | 1106 |
|---|---|
| Entrez Gene ID | 55750 |
| Gene | AGK (GeneCards) |
| Location | hg19 7:141336763-141336763
hg38 7:141636963-141636963 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.141336763 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 224 |
| Amino acid changes in protein | Y > Y |
| 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 | 1.3744 |
| CADD Raw score (version 1.3) | 0.940231 (Deleterious) |
| FATHMM raw prediction score | 0.97086 (Tolerated) |
| Deleterious probability by DeFine | 0.8901 (Deleterious) |
| Entrez Gene ID | 55750 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AGK (GeneCards) |
| Number of variants in AGK in this database | 1 (view all the variants) |
| Full name | acylglycerol kinase |
| Band | 7q34 |
| Other IDs | Vega: OTTHUMG00000157499 OMIM: 610345 HGNC: HGNC:21869 Ensembl: ENSG00000006530 |
| Other names | MULK, CATC5, CTRCT38, MTDPS10 |
| Summary | The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |