AIPL1

AIP like 1 HSP90 co-chaperone

Summary

Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Known Variants449 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11769789217:6,327,087G/A—uncertain significance
rs88605325417:6,327,101C/G—uncertain significance
rs7852630717:6,327,122G/A—likely benign
rs1186906617:6,327,212T/C—likely benign
rs18105569817:6,327,230T/G—uncertain significance
rs88605325517:6,327,243G/T—uncertain significance
rs78094601417:6,327,246C/T—uncertain significance
rs54909959717:6,327,253A/C—uncertain significance
rs14602700117:6,327,279C/T—uncertain significance
rs88605325617:6,327,321C/A—uncertain significance
rs88605325717:6,327,325C/A—uncertain significance
rs88605325817:6,327,336C/T—uncertain significance
rs57150941517:6,327,347T/A—uncertain significance
rs88605325917:6,327,382C/T—uncertain significance
rs90793917:6,327,389A/G—likely benign
rs88605326017:6,327,445T/G—uncertain significance
rs1186911817:6,327,491T/C—likely benign
rs55322092717:6,327,492G/A—uncertain significance
rs7870528517:6,327,541G/A—uncertain significance
rs13907426617:6,327,543G/A—conflicting classifications of pathogenicity
rs90793817:6,327,551A/G—likely benign
rs90793717:6,327,578G/A—likely benign
rs14946005517:6,327,602G/A—conflicting classifications of pathogenicity
rs52878957117:6,327,615G/A—uncertain significance
rs18727463017:6,327,632C/T—uncertain significance
rs287128717:6,327,762T/C—likely benign
rs86849833617:6,327,763G/A—uncertain significance
rs457713517:6,327,771C/T—likely benign
rs11145652817:6,327,773G/A—uncertain significance
rs14861110517:6,327,907A/C—uncertain significance
rs14570616617:6,327,956C/G—conflicting classifications of pathogenicity
rs6206099317:6,328,027C/T—likely benign
rs57492167217:6,328,031C/T—uncertain significance
rs54378996117:6,328,032G/A—uncertain significance
rs1085288117:6,328,174C/T—likely benign
rs54535097217:6,328,204C/T—uncertain significance
rs156763331017:6,328,216C/T—uncertain significance
rs123008809717:6,328,294C/A—uncertain significance
rs90587440217:6,328,346G/A—uncertain significance
rs18250471417:6,328,390C/A—conflicting classifications of pathogenicity
rs88605326117:6,328,500C/T—uncertain significance
rs11230785817:6,328,559C/T—conflicting classifications of pathogenicity
rs131718517:6,328,592C/T—conflicting classifications of pathogenicity
rs116695049617:6,328,616C/T—uncertain significance
rs88605326617:6,328,630T/G—uncertain significance
rs7911858217:6,328,632T/G—uncertain significance
rs88605326717:6,328,633T/G—uncertain significance
rs89804685117:6,328,634T/G—uncertain significance
rs209006817:6,328,646C/A—conflicting classifications of pathogenicity
rs95352352817:6,328,668T/A—uncertain significance
rs15127909817:6,328,727G/A—uncertain significance
rs14047246217:6,328,747T/G—likely benign
rs36956810517:6,328,757G/C—uncertain significance
rs254387433417:6,328,788G/A—uncertain significance
rs75164746317:6,328,790A/T—uncertain significance
rs75612382017:6,328,792C/G—likely benign
rs191181934117:6,328,799C/G—uncertain significance
rs91504472117:6,328,800C/G—uncertain significance
rs254387457117:6,328,803G/A—uncertain significance
rs75714353717:6,328,806A/T—uncertain significance
rs140523165217:6,328,807C/T—likely benign
rs6175748417:6,328,809G/Cmissense variantuncertain significance
rs156763436517:6,328,812G/A—uncertain significance
rs148959956717:6,328,819T/G—likely benign
rs74558646117:6,328,823G/C—uncertain significance
rs13907910717:6,328,827G/A—conflicting classifications of pathogenicity
rs74645326317:6,328,833C/T—uncertain significance
rs88604460817:6,328,834A/G—uncertain significance
rs191182715917:6,328,835G/A—uncertain significance
rs142353816917:6,328,836G/A—uncertain significance
rs135121282517:6,328,839G/T—uncertain significance
rs191182907517:6,328,840C/A—likely benign
rs20187514217:6,328,845C/A—uncertain significance
rs254387518617:6,328,851G/A—likely benign
rs127868603217:6,328,854C/T—uncertain significance
rs159732504317:6,328,855T/G—likely benign
rs215067392817:6,328,861T/C—likely benign
rs76663972617:6,328,874G/A—uncertain significance
rs145233299917:6,328,877T/C—uncertain significance
rs75170071117:6,328,881C/T—uncertain significance
rs97201732917:6,328,883G/A—uncertain significance
rs77704285617:6,328,888C/T—likely benign
rs254387561417:6,328,891T/G—likely benign
rs75385436717:6,328,899A/G—uncertain significance
rs75712146717:6,328,905C/G—uncertain significance
rs191183998517:6,328,906G/A—likely benign
rs77879478417:6,328,907G/A—uncertain significance
rs75018253117:6,328,911G/A—uncertain significance
rs14309270117:6,328,929C/T—benign
rs20157068117:6,328,930G/A—likely benign
rs86322336317:6,328,931G/A—uncertain significance
rs254387611817:6,328,933A/C—likely benign
rs74870769317:6,328,939C/T—likely benign
rs77015981417:6,328,940G/A—uncertain significance
rs120870329717:6,328,950G/A—likely pathogenic
rs136189027117:6,328,952C/G—uncertain significance
rs191185212917:6,328,954C/T—likely benign
rs148374494817:6,328,963C/A—likely benign
rs15042747417:6,328,964C/A—benign
rs37509620917:6,328,965G/T—conflicting classifications of pathogenicity

Showing 100 of 449 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.