| Variant ID | 7677 |
|---|---|
| Entrez Gene ID | 1010 |
| Gene | CDH12 (GeneCards) |
| Location | hg19 5:21836947-21836947
hg38 5:21836838-21836838 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.21836947 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1389 |
| CADD Raw score (version 1.3) | 0.047813 (Deleterious) |
| FATHMM raw prediction score | 0.15613 (Tolerated) |
| Deleterious probability by DeFine | 0.7541 (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 | 29217584.06 (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; |