Variant ID | 1225 |
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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 | NextSeq500 v2 |
Mutation(HGVS format) | NC_000012.11:g.10280034_10280034 del (Genome Assembly: hg19) |
Exon or Intron | Exon |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NM_022570.4 |
mRNA length | 2484 |
Reference length | 133851895 |
Deleterious probability by DeFine | 0.3319 (Neutral) |
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Entrez Gene ID | 64581 (NCBI Gene) |
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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 | 28867142.13 (view all the variants in this individual) |
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Pubmed ID | 28867142 |
Whose mosaic mutation | Female 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 |
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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; |