VPS26C VPS26 endosomal protein sorting factor C
Gene ID: 10311, updated on 28-Oct-2024Gene type: protein coding
Also known as: DCRA; DSCR3; DSCRA
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- Go to complete Gene record for VPS26C
- Go to Variation Viewer for VPS26C variants
Summary
The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-04-24) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-04-24) ClinGen Genome Curation Page |
Genomic context
- Location:
- 21q22.13
- Sequence:
- Chromosome: 21; NC_000021.9 (37223420..37268108, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VPS26C variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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