| Variant ID | 17639 |
|---|---|
| Entrez Gene ID | 27253 |
| Gene | PCDH17 (GeneCards) |
| Location | hg19 13:58549901-58549901
hg38 13:57975767-57975767 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.58549901 A>C (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 | 0.2699 |
| CADD Raw score (version 1.3) | 1.634616 (Deleterious) |
| FATHMM raw prediction score | 0.13489 (Tolerated) |
| Deleterious probability by DeFine | 0.3116 (Neutral) |
| Entrez Gene ID | 27253 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDH17 (GeneCards) |
| Number of variants in PCDH17 in this database | 7 (view all the variants) |
| Full name | protocadherin 17 |
| Band | 13q21.1 |
| Other IDs | Vega: OTTHUMG00000016992 OMIM: 611760 HGNC: HGNC:14267 Ensembl: ENSG00000118946 |
| Other names | PCH68, PCDH68 |
| Summary | This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.13 (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; |