| Variant ID | 11158 |
|---|---|
| Entrez Gene ID | 55610 |
| Gene | CCDC132 (GeneCards) |
| Location | hg19 7:93051075-93051075
hg38 7:93421763-93421763 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.93051075 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5858 |
| CADD Raw score (version 1.3) | -0.289683 (Deleterious) |
| FATHMM raw prediction score | 0.07461 (Tolerated) |
| Deleterious probability by DeFine | 0.2682 (Neutral) |
| Entrez Gene ID | 55610 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCDC132 (GeneCards) |
| Number of variants in VPS50 in this database | 3 (view all the variants) |
| Full name | VPS50, EARP/GARPII complex subunit |
| Band | 7q21.2-q21.3 |
| Other IDs | Vega: OTTHUMG00000131733 OMIM: 616465 HGNC: HGNC:25956 Ensembl: ENSG00000004766 |
| Other names | VPS54L, CCDC132 |
| Summary | None |
| 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; |