| Variant ID | 1093 |
|---|---|
| Entrez Gene ID | 1010 |
| Gene | CDH12 (GeneCards) |
| Location | hg19 5:22078972-22078972
hg38 5:22078863-22078863 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000005.9:g.22078972 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| EIGEN score | 1.5446 |
| CADD Raw score (version 1.3) | 3.871723 (Deleterious) |
| FATHMM raw prediction score | 0.96185 (Tolerated) |
| Deleterious probability by DeFine | 0.968 (Deleterious) |
| Entrez Gene ID | 1010 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDH12 (GeneCards) |
| Number of variants in CDH12 in this database | 25 (view all the variants) |
| Full name | cadherin 12 |
| Band | 5p14.3 |
| Other IDs | Vega: OTTHUMG00000090591 OMIM: 600562 HGNC: HGNC:1751 Ensembl: ENSG00000154162 |
| Other names | CDHB |
| Summary | This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and 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 histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |