| Variant ID | 21544 |
|---|---|
| Entrez Gene ID | 9217 |
| Gene | VAPB (GeneCards) |
| Location | hg19 20:57024537-57024537
hg38 20:58449481-58449481 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.57024537 T>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.969 |
| CADD Raw score (version 1.3) | 1.228299 (Deleterious) |
| FATHMM raw prediction score | 0.86171 (Tolerated) |
| Deleterious probability by DeFine | 0.7853 (Deleterious) |
| Entrez Gene ID | 9217 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VAPB (GeneCards) |
| Number of variants in VAPB in this database | 2 (view all the variants) |
| Full name | VAMP associated protein B and C |
| Band | 20q13.32 |
| Other IDs | Vega: OTTHUMG00000032840 OMIM: 605704 HGNC: HGNC:12649 Ensembl: ENSG00000124164 |
| Other names | ALS8, VAP-B, VAMP-B |
| Summary | The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |