| Variant ID | 29481 |
|---|---|
| Entrez Gene ID | 28316 |
| Gene | CDH20 (GeneCards) |
| Location | hg19 18:59157888-59157888
hg38 18:61490655-61490655 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000018.9:g.59157888 G>A (Genome Assembly: hg19) |
| 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) | 0.00006463 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2881213 |
| Variant occurences in COSMIC | 1(prostate)|1(large_intestine) |
| EIGEN score | -0.143 |
| CADD Raw score (version 1.3) | -0.00442 (Deleterious) |
| FATHMM raw prediction score | 0.11884 (Tolerated) |
| Deleterious probability by DeFine | 0.8233 (Deleterious) |
| 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 | 28714951.157 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |