| Variant ID | 29564 |
|---|---|
| Entrez Gene ID | 64581 |
| Gene | CLEC7A (GeneCards) |
| Location | hg19 12:10280034-10280034
hg38 12:10127435-10127435 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.10280034 G>A (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1198 |
| CADD Raw score (version 1.3) | -0.080821 (Deleterious) |
| FATHMM raw prediction score | 0.17755 (Tolerated) |
| Deleterious probability by DeFine | 0.5156 (Deleterious) |
| Entrez Gene ID | 64581 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLEC7A (GeneCards) |
| Number of variants in CLEC7A in this database | 2 (view all the variants) |
| Full name | C-type lectin domain containing 7A |
| Band | 12p13.2 |
| Other IDs | Vega: OTTHUMG00000133597 OMIM: 606264 HGNC: HGNC:14558 Ensembl: ENSG00000172243 |
| Other names | BGR, CD369, CANDF4, SCARE2, DECTIN1, CLECSF12 |
| Summary | This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.240 (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; |