| Variant ID | 17868 |
|---|---|
| Entrez Gene ID | 5101 |
| Gene | PCDH9 (GeneCards) |
| Location | hg19 13:67606369-67606369
hg38 13:67032237-67032237 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.67606369 G>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 | -0.334 |
| CADD Raw score (version 1.3) | -0.113652 (Deleterious) |
| FATHMM raw prediction score | 0.06572 (Tolerated) |
| Deleterious probability by DeFine | 0.1304 (Neutral) |
| Entrez Gene ID | 5101 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDH9 (GeneCards) |
| Number of variants in PCDH9 in this database | 14 (view all the variants) |
| Full name | protocadherin 9 |
| Band | 13q21.32 |
| Other IDs | Vega: OTTHUMG00000017040 OMIM: 603581 HGNC: HGNC:8661 Ensembl: ENSG00000184226 |
| Other names | None |
| Summary | This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012] |
| 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; |