LCA5 lebercilin LCA5
Gene ID: 167691, updated on 5-Mar-2024Gene type: protein coding
Also known as: C6orf152
- See all available tests in GTR for this gene
- Go to complete Gene record for LCA5
- Go to Variation Viewer for LCA5 variants
Summary
This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association study of antiphospholipid antibodies. GeneReviews: Not available | |
Genome-wide association study of hoarding traits. GeneReviews: Not available | |
Leber congenital amaurosis 5 MedGen: C1858301OMIM: 604537GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview | See labs |
Genomic context
- Location:
- 6q14.1
- Sequence:
- Chromosome: 6; NC_000006.12 (79484991..79538782, complement)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for LCA5 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LCA5 database
- 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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