| Variant ID | 12331 |
|---|---|
| Entrez Gene ID | 157680 |
| Gene | VPS13B (GeneCards) |
| Location | hg19 8:100309965-100309965
hg38 8:99297737-99297737 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.100309965 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0554 |
| CADD Raw score (version 1.3) | 0.052289 (Deleterious) |
| FATHMM raw prediction score | 0.1241 (Tolerated) |
| Deleterious probability by DeFine | 0.1668 (Neutral) |
| Entrez Gene ID | 157680 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS13B (GeneCards) |
| Number of variants in VPS13B in this database | 4 (view all the variants) |
| Full name | vacuolar protein sorting 13 homolog B |
| Band | 8q22.2 |
| Other IDs | Vega: OTTHUMG00000140383 OMIM: 607817 HGNC: HGNC:2183 Ensembl: ENSG00000132549 |
| Other names | CHS1, COH1 |
| Summary | This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.13 (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; |