Overview

Variant ID 1225
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)

Other information

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 NM_022570.4
mRNA length 2484
Reference length 133851895

Annotations and predictions

Deleterious probability by DeFine 0.3319 (Neutral)
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 #1

Individual ID 28867142.13 (view all the variants in this individual)
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

Publication #1: 28867142

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;