| Variant ID | 7541 |
|---|---|
| Entrez Gene ID | 1016 |
| Gene | CDH18 (GeneCards) |
| Location | hg19 5:19631321-19631321
hg38 5:19631212-19631212 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.19631321 T>C (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| EIGEN score | 0.0087 |
| CADD Raw score (version 1.3) | 0.31358 (Deleterious) |
| FATHMM raw prediction score | 0.10701 (Tolerated) |
| Deleterious probability by DeFine | 0.5927 (Deleterious) |
| Entrez Gene ID | 1016 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDH18 (GeneCards) |
| Number of variants in CDH18 in this database | 19 (view all the variants) |
| Full name | cadherin 18 |
| Band | 5p14.3 |
| Other IDs | Vega: OTTHUMG00000090578 OMIM: 603019 HGNC: HGNC:1757 Ensembl: ENSG00000145526 |
| Other names | CDH14, CDH24, CDH14L |
| Summary | This gene encodes a type II classical cadherin from the cadherin superfamily of 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. 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 specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] |
| Individual ID | 29217584.03 (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; |