PDE6C phosphodiesterase 6C
Gene ID: 5146, updated on 27-Nov-2024Gene type: protein coding
Also known as: COD4; ACHM5; PDEA2
- See all available tests in GTR for this gene
- Go to complete Gene record for PDE6C
- Go to Variation Viewer for PDE6C variants
Summary
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of preschool internalizing problems. GeneReviews: Not available | |
| Achromatopsia MedGen: C0152200GeneReviews: Achromatopsia | See labs |
| Cone dystrophy 4 | See labs |
Genomic context
- Location:
- 10q23.33
- Sequence:
- Chromosome: 10; NC_000010.11 (93612537..93666010)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PDE6C variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PDE6C @ LOVD
- 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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