| Variant ID | 13187 |
|---|---|
| Entrez Gene ID | 23230 |
| Gene | VPS13A (GeneCards) |
| Location | hg19 9:79824221-79824221
hg38 9:77209305-77209305 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.79824221 C>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1967 |
| CADD Raw score (version 1.3) | 0.363013 (Deleterious) |
| FATHMM raw prediction score | 0.18953 (Tolerated) |
| Deleterious probability by DeFine | 0.5854 (Deleterious) |
| Entrez Gene ID | 23230 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS13A (GeneCards) |
| Number of variants in VPS13A in this database | 3 (view all the variants) |
| Full name | vacuolar protein sorting 13 homolog A |
| Band | 9q21.2 |
| Other IDs | Vega: OTTHUMG00000020055 OMIM: 605978 HGNC: HGNC:1908 Ensembl: ENSG00000197969 |
| Other names | CHAC, CHOREIN |
| Summary | The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.09 (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; |