| Variant ID | 20370 |
|---|---|
| Entrez Gene ID | 28316 |
| Gene | CDH20 (GeneCards) |
| Location | hg19 18:59389373-59389373
hg38 18:61722140-61722140 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.59389373 T>A (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 | -0.2022 |
| CADD Raw score (version 1.3) | 0.136041 (Deleterious) |
| FATHMM raw prediction score | 0.19157 (Tolerated) |
| Deleterious probability by DeFine | 0.3771 (Neutral) |
| Entrez Gene ID | 28316 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDH20 (GeneCards) |
| Number of variants in CDH20 in this database | 3 (view all the variants) |
| Full name | cadherin 20 |
| Band | 18q21.33 |
| Other IDs | Vega: OTTHUMG00000132768 OMIM: 605807 HGNC: HGNC:1760 Ensembl: ENSG00000101542 |
| Other names | Cdh7, CDH7L3 |
| Summary | This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.09 (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; |