DGCR6 DiGeorge syndrome critical region gene 6
Gene ID: 8214, updated on 5-Mar-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for DGCR6
- Go to Variation Viewer for DGCR6 variants
Summary
DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Velocardiofacial syndrome | See labs |
Genomic context
- Location:
- 22q11.21; 22q11
- Sequence:
- Chromosome: 22; NC_000022.11 (18906223..18912088)
- Total number of exons:
- 6
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for DGCR6 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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