| Variant ID | 21496 |
|---|---|
| Entrez Gene ID | 140689 |
| Gene | CBLN4 (GeneCards) |
| Location | hg19 20:54819814-54819814
hg38 20:56244758-56244758 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.54819814 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0101 |
| CADD Raw score (version 1.3) | -0.194507 (Deleterious) |
| FATHMM raw prediction score | 0.12216 (Tolerated) |
| Deleterious probability by DeFine | 0.2259 (Neutral) |
| Entrez Gene ID | 140689 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CBLN4 (GeneCards) |
| Number of variants in CBLN4 in this database | 5 (view all the variants) |
| Full name | cerebellin 4 precursor |
| Band | 20q13.2 |
| Other IDs | Vega: OTTHUMG00000032782 OMIM: 615029 HGNC: HGNC:16231 Ensembl: ENSG00000054803 |
| Other names | CBLNL1 |
| Summary | This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 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; |