| Variant ID | 4376 |
|---|---|
| Entrez Gene ID | 55619 |
| Gene | DOCK10 (GeneCards) |
| Location | hg19 2:226043215-226043215
hg38 2:225178498-225178498 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.226043215 T>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1388 |
| CADD Raw score (version 1.3) | 0.454186 (Deleterious) |
| FATHMM raw prediction score | 0.16357 (Tolerated) |
| Deleterious probability by DeFine | 0.651 (Deleterious) |
| Entrez Gene ID | 55619 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DOCK10 (GeneCards) |
| Number of variants in DOCK10 in this database | 12 (view all the variants) |
| Full name | dedicator of cytokinesis 10 |
| Band | 2q36.2 |
| Other IDs | Vega: OTTHUMG00000153428 OMIM: 611518 HGNC: HGNC:23479 Ensembl: ENSG00000135905 |
| Other names | ZIZ3, DRIP2, Nbla10300 |
| Summary | This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |