GENETIC ENCYCLOPEDIA
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gene: LCA5

id167691
symbolLCA5
organismHomo sapiens
full namelebercilin LCA5
summaryThis 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]
variant-disease

NM_001122769.3(LCA5):c.1746C>T (p.Asn582=) AND Leber congenital amaurosis

NM_001122769.3(LCA5):c.-414C>T AND Leber congenital amaurosis

NM_001122769.3(LCA5):c.1080A>G (p.Glu360=) AND Leber congenital amaurosis

NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) AND Leber congenital amaurosis

NM_001122769.3(LCA5):c.*903A>G AND Leber congenital amaurosis

... 93 more


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