| Variant ID | 29541 |
|---|---|
| Entrez Gene ID | 1186 |
| Gene | CLCN7 (GeneCards) |
| Location | hg19 16:1510938-1510938
hg38 16:1460937-1460937 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.1510938 C>T (Genome Assembly: hg19) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003231 |
|---|---|
| EIGEN score | 0.1511 |
| CADD Raw score (version 1.3) | 1.617032 (Deleterious) |
| FATHMM raw prediction score | 0.10306 (Tolerated) |
| Deleterious probability by DeFine | 0.9149 (Deleterious) |
| Entrez Gene ID | 1186 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLCN7 (GeneCards) |
| Number of variants in CLCN7 in this database | 1 (view all the variants) |
| Full name | chloride voltage-gated channel 7 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000044467 OMIM: 602727 HGNC: HGNC:2025 Ensembl: ENSG00000103249 |
| Other names | CLC7, CLC-7, OPTA2, OPTB4, PPP1R63 |
| Summary | The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.217 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |