| Variant ID | 20711 |
|---|---|
| Entrez Gene ID | 147372 |
| Gene | CCBE1 (GeneCards) |
| Location | hg19 18:57562274-57562274
hg38 18:59895042-59895042 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.57562274 C>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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0568 |
| CADD Raw score (version 1.3) | 0.064531 (Deleterious) |
| FATHMM raw prediction score | 0.08733 (Tolerated) |
| Deleterious probability by DeFine | 0.2863 (Neutral) |
| Entrez Gene ID | 147372 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCBE1 (GeneCards) |
| Number of variants in CCBE1 in this database | 9 (view all the variants) |
| Full name | collagen and calcium binding EGF domains 1 |
| Band | 18q21.32 |
| Other IDs | Vega: OTTHUMG00000180087 OMIM: 612753 HGNC: HGNC:29426 Ensembl: ENSG00000183287 |
| Other names | HKLLS1 |
| Summary | This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] |
| 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; |