| Variant ID | 11345 |
|---|---|
| Entrez Gene ID | 9069 |
| Gene | CLDN12 (GeneCards) |
| Location | hg19 7:90176080-90176080
hg38 7:90546766-90546766 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.90176080 T>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3572 |
| CADD Raw score (version 1.3) | 0.043446 (Deleterious) |
| FATHMM raw prediction score | 0.06473 (Tolerated) |
| Deleterious probability by DeFine | 0.0396 (Neutral) |
| Entrez Gene ID | 9069 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLDN12 (GeneCards) |
| Number of variants in CLDN12 in this database | 3 (view all the variants) |
| Full name | claudin 12 |
| Band | 7q21.13 |
| Other IDs | Vega: OTTHUMG00000156612 OMIM: 611232 HGNC: HGNC:2034 Ensembl: ENSG00000157224 |
| Other names | None |
| Summary | This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and claudin 2 are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, Sep 2011] |
| Individual ID | 29217584.16 (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; |