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AIPL1

From SNPedia
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# SNPs11
 Max MagnitudeChromosome positionSummary
rs1244958006,433,927
rs14232692606,426,615
rs28186519506,425,551
rs6175748406,425,489
rs6263701006,426,934
rs6263701106,426,906
rs6263701206,426,684
rs6263701406,425,781
rs6263701506,425,710
rs6263701606,425,604
rs77536498606,433,984

The AIPL1 gene, located on chromosome 17, encodes the Aryl-hydrocarbon-interacting-protein-like 1 protein. Recessively inherited mutations in the AIPL1 gene may be pathogenic for several retinal conditions, including:


A 2015 study identified the AIPL1 p.W278X (c.834G>A) mutation, rs62637014, as the most common AIPL1 LCA-associated mutation, occurring in at least one allele in 62% of patients.[PMID 25596619]