LCA5 Back

Leber congenital amaurosis 5

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NCBI Description of LCA5
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

LCA5 is highly significantly mutated in
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LCA5 is significantly mutated in
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LCA5 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for LCA5