| Variant ID | 19680 |
|---|---|
| Entrez Gene ID | 1006 |
| Gene | CDH8 (GeneCards) |
| Location | hg19 16:62504482-62504482
hg38 16:62470578-62470578 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.62504482 C>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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2868 |
| CADD Raw score (version 1.3) | -0.220174 (Deleterious) |
| FATHMM raw prediction score | 0.09595 (Tolerated) |
| Deleterious probability by DeFine | 0.0852 (Neutral) |
| Entrez Gene ID | 1006 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDH8 (GeneCards) |
| Number of variants in CDH8 in this database | 30 (view all the variants) |
| Full name | cadherin 8 |
| Band | 16q21 |
| Other IDs | Vega: OTTHUMG00000137493 OMIM: 603008 HGNC: HGNC:1767 Ensembl: ENSG00000150394 |
| Other names | Nbla04261 |
| Summary | This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [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; |