| Variant ID | 8618 |
|---|---|
| Entrez Gene ID | 1501 |
| Gene | CTNND2 (GeneCards) |
| Location | hg19 5:12361462-12361462
hg38 5:12361350-12361350 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.12361462 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2098 |
| CADD Raw score (version 1.3) | -0.048907 (Deleterious) |
| FATHMM raw prediction score | 0.14453 (Tolerated) |
| Deleterious probability by DeFine | 0.3483 (Neutral) |
| Entrez Gene ID | 1501 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTNND2 (GeneCards) |
| Number of variants in CTNND2 in this database | 24 (view all the variants) |
| Full name | catenin delta 2 |
| Band | 5p15.2 |
| Other IDs | Vega: OTTHUMG00000090511 OMIM: 604275 HGNC: HGNC:2516 Ensembl: ENSG00000169862 |
| Other names | GT24, NPRAP |
| Summary | This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] |
| Individual ID | 29217584.17 (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; |