| Variant ID | 27681 |
|---|---|
| Entrez Gene ID | 27253 |
| Gene | PCDH17 (GeneCards) |
| Location | hg19 13:58426579-58426579
hg38 13:57852445-57852445 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000013.10:g.58426579 C>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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1789 |
| CADD Raw score (version 1.3) | 0.187106 (Deleterious) |
| FATHMM raw prediction score | 0.10172 (Tolerated) |
| Deleterious probability by DeFine | 0.2278 (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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |