| Variant ID | 20685 |
|---|---|
| Entrez Gene ID | 1000 |
| Gene | CDH2 (GeneCards) |
| Location | hg19 18:26181259-26181259
hg38 18:28601295-28601295 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.26181259 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | -0.2785 |
| CADD Raw score (version 1.3) | 0.02025 (Deleterious) |
| FATHMM raw prediction score | 0.11191 (Tolerated) |
| Deleterious probability by DeFine | 0.0864 (Neutral) |
| 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 | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |