| Variant ID | 10045 |
|---|---|
| Entrez Gene ID | 23607 |
| Gene | CD2AP (GeneCards) |
| Location | hg19 6:47613176-47613176
hg38 6:47645440-47645440 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.47613176 A>T (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3178 |
| CADD Raw score (version 1.3) | -0.080585 (Deleterious) |
| FATHMM raw prediction score | 0.08102 (Tolerated) |
| Deleterious probability by DeFine | 0.0998 (Neutral) |
| Entrez Gene ID | 23607 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CD2AP (GeneCards) |
| Number of variants in CD2AP in this database | 1 (view all the variants) |
| Full name | CD2 associated protein |
| Band | 6p12.3 |
| Other IDs | Vega: OTTHUMG00000014799 OMIM: 604241 HGNC: HGNC:14258 Ensembl: ENSG00000198087 |
| Other names | CMS |
| Summary | This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |