| Variant ID | 17875 |
|---|---|
| Entrez Gene ID | 64881 |
| Gene | PCDH20 (GeneCards) |
| Location | hg19 13:62210715-62210715
hg38 13:61636582-61636582 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.62210715 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2563 |
| CADD Raw score (version 1.3) | -0.039017 (Deleterious) |
| FATHMM raw prediction score | 0.08769 (Tolerated) |
| Deleterious probability by DeFine | 0.2152 (Neutral) |
| Entrez Gene ID | 64881 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDH20 (GeneCards) |
| Number of variants in PCDH20 in this database | 6 (view all the variants) |
| Full name | protocadherin 20 |
| Band | 13q21.2 |
| Other IDs | Vega: OTTHUMG00000189120 OMIM: 614449 HGNC: HGNC:14257 Ensembl: ENSG00000280165 |
| Other names | PCDH13 |
| Summary | This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] |
| 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; |