| Variant ID | 2528 |
|---|---|
| Entrez Gene ID | 55187 |
| Gene | VPS13D (GeneCards) |
| Location | hg19 1:12606784-12606784
hg38 1:12546750-12546750 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.12606784 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1625 |
| CADD Raw score (version 1.3) | -0.448941 (Deleterious) |
| FATHMM raw prediction score | 0.1161 (Tolerated) |
| Deleterious probability by DeFine | 0.5709 (Deleterious) |
| Entrez Gene ID | 55187 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS13D (GeneCards) |
| Number of variants in VPS13D in this database | 5 (view all the variants) |
| Full name | vacuolar protein sorting 13 homolog D |
| Band | 1p36.22-p36.21 |
| Other IDs | Vega: OTTHUMG00000013155 OMIM: 608877 HGNC: HGNC:23595 Ensembl: ENSG00000048707 |
| Other names | None |
| Summary | This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.15 (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; |