| Variant ID | 19712 |
|---|---|
| Entrez Gene ID | 1012 |
| Gene | CDH13 (GeneCards) |
| Location | hg19 16:83821275-83821275
hg38 16:83787670-83787670 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.83821275 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.6114 |
| CADD Raw score (version 1.3) | -0.334705 (Deleterious) |
| FATHMM raw prediction score | 0.06235 (Tolerated) |
| Deleterious probability by DeFine | 0.2403 (Neutral) |
| Entrez Gene ID | 1012 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDH13 (GeneCards) |
| Number of variants in CDH13 in this database | 26 (view all the variants) |
| Full name | cadherin 13 |
| Band | 16q23.3 |
| Other IDs | Vega: OTTHUMG00000176635 OMIM: 601364 HGNC: HGNC:1753 Ensembl: ENSG00000140945 |
| Other names | CDHH, P105 |
| Summary | This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] |
| Individual ID | 29217584.19 (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; |