| Variant ID | 4384 |
|---|---|
| Entrez Gene ID | 129684 |
| Gene | CNTNAP5 (GeneCards) |
| Location | hg19 2:126023904-126023904
hg38 2:125266327-125266327 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.126023904 A>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3371 |
| CADD Raw score (version 1.3) | -0.089556 (Deleterious) |
| FATHMM raw prediction score | 0.07848 (Tolerated) |
| Deleterious probability by DeFine | 0.0774 (Neutral) |
| Entrez Gene ID | 129684 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNTNAP5 (GeneCards) |
| Number of variants in CNTNAP5 in this database | 33 (view all the variants) |
| Full name | contactin associated protein like 5 |
| Band | 2q14.3 |
| Other IDs | Vega: OTTHUMG00000153356 OMIM: 610519 HGNC: HGNC:18748 Ensembl: ENSG00000155052 |
| Other names | caspr5 |
| Summary | This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [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; |