| Variant ID | 14142 |
|---|---|
| Entrez Gene ID | 65217 |
| Gene | PCDH15 (GeneCards) |
| Location | hg19 10:56271342-56271342
hg38 10:54511582-54511582 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.56271342 A>G (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6535 |
| CADD Raw score (version 1.3) | -0.451907 (Deleterious) |
| FATHMM raw prediction score | 0.0365 (Tolerated) |
| Deleterious probability by DeFine | 0.195 (Neutral) |
| Entrez Gene ID | 65217 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDH15 (GeneCards) |
| Number of variants in PCDH15 in this database | 28 (view all the variants) |
| Full name | protocadherin related 15 |
| Band | 10q21.1 |
| Other IDs | Vega: OTTHUMG00000018259 OMIM: 605514 HGNC: HGNC:14674 Ensembl: ENSG00000150275 |
| Other names | USH1F, CDHR15, DFNB23 |
| Summary | This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] |
| Individual ID | 29217584.08 (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; |