| Variant ID | 19055 |
|---|---|
| Entrez Gene ID | 57617 |
| Gene | VPS18 (GeneCards) |
| Location | hg19 15:41197689-41197689
hg38 15:40905491-40905491 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.41197689 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 | -0.3366 |
| CADD Raw score (version 1.3) | -0.098106 (Deleterious) |
| FATHMM raw prediction score | 0.06168 (Tolerated) |
| Deleterious probability by DeFine | 0.1311 (Neutral) |
| Entrez Gene ID | 57617 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS18 (GeneCards) |
| Number of variants in VPS18 in this database | 3 (view all the variants) |
| Full name | VPS18, CORVET/HOPS core subunit |
| Band | 15q15.1 |
| Other IDs | Vega: OTTHUMG00000130135 OMIM: 608551 HGNC: HGNC:15972 Ensembl: ENSG00000104142 |
| Other names | PEP3 |
| Summary | Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.12 (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; |