| Variant ID | 18760 |
|---|---|
| Entrez Gene ID | 54832 |
| Gene | VPS13C (GeneCards) |
| Location | hg19 15:62265484-62265484
hg38 15:61973285-61973285 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.62265484 G>A (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 | 0.0999 |
| CADD Raw score (version 1.3) | 0.618772 (Deleterious) |
| FATHMM raw prediction score | 0.14431 (Tolerated) |
| Deleterious probability by DeFine | 0.6221 (Deleterious) |
| Entrez Gene ID | 54832 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS13C (GeneCards) |
| Number of variants in VPS13C in this database | 3 (view all the variants) |
| Full name | vacuolar protein sorting 13 homolog C |
| Band | 15q22.2 |
| Other IDs | Vega: OTTHUMG00000132801 OMIM: 608879 HGNC: HGNC:23594 Ensembl: ENSG00000129003 |
| Other names | PARK23 |
| Summary | This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] |
| 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; |