| Variant ID | 19797 |
|---|---|
| Entrez Gene ID | 55275 |
| Gene | VPS53 (GeneCards) |
| Location | hg19 17:429041-429041
hg38 17:525801-525801 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.429041 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3049 |
| CADD Raw score (version 1.3) | 1.890434 (Deleterious) |
| FATHMM raw prediction score | 0.6874 (Tolerated) |
| Deleterious probability by DeFine | 0.0754 (Neutral) |
| Entrez Gene ID | 55275 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS53 (GeneCards) |
| Number of variants in VPS53 in this database | 1 (view all the variants) |
| Full name | VPS53, GARP complex subunit |
| Band | 17p13.3 |
| Other IDs | Vega: OTTHUMG00000177441 OMIM: 615850 HGNC: HGNC:25608 Ensembl: ENSG00000141252 |
| Other names | HCCS1, PCH2E, hVps53L, pp13624 |
| Summary | This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 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; |