| Variant ID | 20342 |
|---|---|
| Entrez Gene ID | 1000 |
| Gene | CDH2 (GeneCards) |
| Location | hg19 18:26975722-26975722
hg38 18:29395757-29395757 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.26975722 C>T (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 | 0.1489 |
| CADD Raw score (version 1.3) | 0.090938 (Deleterious) |
| FATHMM raw prediction score | 0.07151 (Tolerated) |
| Deleterious probability by DeFine | 0.5585 (Deleterious) |
| Entrez Gene ID | 1000 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDH2 (GeneCards) |
| Number of variants in CDH2 in this database | 33 (view all the variants) |
| Full name | cadherin 2 |
| Band | 18q12.1 |
| Other IDs | Vega: OTTHUMG00000059940 OMIM: 114020 HGNC: HGNC:1759 Ensembl: ENSG00000170558 |
| Other names | CDHN, NCAD, CD325, CDw325 |
| Summary | This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015] |
| Individual ID | 29217584.08 (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; |