| Variant ID | 29750 |
|---|---|
| Entrez Gene ID | 9076 |
| Gene | CLDN1 (GeneCards) |
| Location | hg19 3:190030680-190030680
hg38 3:190312891-190312891 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.190030680 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1062 |
| CADD Raw score (version 1.3) | -0.428617 (Deleterious) |
| FATHMM raw prediction score | 0.13393 (Tolerated) |
| Deleterious probability by DeFine | 0.8418 (Deleterious) |
| Entrez Gene ID | 9076 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLDN1 (GeneCards) |
| Number of variants in CLDN1 in this database | 5 (view all the variants) |
| Full name | claudin 1 |
| Band | 3q28 |
| Other IDs | Vega: OTTHUMG00000156214 OMIM: 603718 HGNC: HGNC:2032 Ensembl: ENSG00000163347 |
| Other names | CLD1, SEMP1, ILVASC |
| Summary | Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.30 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |