CDKL5

cyclin dependent kinase like 5

Summary

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

Known Variants911 total

rsidPosition (GRCh37)AllelesClassClinVar
rs777401314X:18,443,538G/T—likely benign
rs184407021X:18,443,552C/G—benign
rs191864898X:18,443,587G/T—likely benign
rs587783397X:18,443,713C/G—benign
rs786204994X:18,443,789C/T—uncertain significance
rs1555928752X:18,443,804G/A—likely benign
rs1057520478X:18,443,825C/T—likely benign
rs913326290X:18,443,828G/A—likely benign
rs937436369X:18,443,834A/C—benign
rs187188170X:18,443,951T/C—likely benign
rs2283722X:18,460,280A/G—benign
rs5909184X:18,482,665C/G——
rs11094741X:18,490,404T/C——
rs5909186X:18,503,045A/Gintron variant—
rs2147091932X:18,524,952C/G—benign
rs786204973X:18,525,053A/G—pathogenic
rs1483246379X:18,525,199A/G—likely benign
rs780970781X:18,525,210T/G—likely benign
rs79219416X:18,525,212T/A—likely benign
rs138539908X:18,525,223A/T—uncertain significance
rs767844474X:18,525,229A/G—uncertain significance
rs1922604127X:18,525,232A/G—uncertain significance
rs746036179X:18,525,233T/C—uncertain significance
rs1922604912X:18,525,237T/C—likely benign
rs1569197962X:18,525,242T/C—uncertain significance
rs2518776860X:18,525,245T/C—uncertain significance
rs2147092100X:18,525,253T/A—uncertain significance
rs1922605766X:18,525,254T/C—likely pathogenic
rs2518776882X:18,525,262C/G—uncertain significance
rs772299455X:18,525,267G/A—likely benign
rs1602230515X:18,525,269T/A—pathogenic
rs267608418X:18,525,274G/Amissense variantpathogenic
rs786204962X:18,525,275G/Tmissense variantpathogenic
rs2518776911X:18,525,277G/A—pathogenic
rs587783406X:18,525,278A/G—likely pathogenic
rs2518776916X:18,525,279A/T—uncertain significance
rs1922607139X:18,525,280G/A—likely pathogenic
rs1922607301X:18,525,281G/C—pathogenic
rs2518776931X:18,525,282T/G—likely pathogenic
rs267608419X:18,525,282——pathogenic
rs775504546X:18,525,283A/G—uncertain significance
rs747057962X:18,525,284A/G—uncertain significance
rs1922607826X:18,525,294T/C—likely benign
rs753174499X:18,525,298C/T—likely benign
rs776988929X:18,525,299G/A—benign
rs374664378X:18,525,306G/A—benign
rs148366254X:18,525,324A/T—likely benign
rs532222548X:18,528,927C/T—likely benign
rs1411332787X:18,528,933A/C—likely benign
rs777490768X:18,528,936A/G—uncertain significance
rs1555940533X:18,528,939G/A—pathogenic
rs1602232972X:18,528,940G/A—likely pathogenic
rs1922801133X:18,528,946A/G—conflicting classifications of pathogenicity
rs587783130X:18,528,948G/Amissense variantpathogenic
rs2518781124X:18,528,949G/T—pathogenic
rs2518781128X:18,528,955T/C—pathogenic
rs2518781132X:18,528,961A/C—pathogenic
rs1555940536X:18,528,964G/A—uncertain significance
rs786204991X:18,528,966A/Gmissense variantpathogenic
rs140332992X:18,528,968A/G—likely benign
rs267608421X:18,528,975G/T—pathogenic
rs587783131X:18,528,979G/A—pathogenic
rs1602233003X:18,528,983A/G—uncertain significance
rs267608422X:18,529,003T/G—likely benign
rs137874941X:18,529,008A/G—likely benign
rs187395206X:18,582,354A/G—likely benign
rs147529625X:18,582,453A/G—benign
rs759234287X:18,582,577C/T—likely benign
rs752279222X:18,582,590C/T—conflicting classifications of pathogenicity
rs2147132216X:18,582,594C/G—uncertain significance
rs267608423X:18,582,595A/G—pathogenic
rs2518834440X:18,582,597G/T—pathogenic
rs1924898828X:18,582,600A/C—uncertain significance
rs1555947847X:18,582,610T/G—likely pathogenic
rs1924899673X:18,582,613T/G—likely pathogenic
rs122460159X:18,582,616C/Tmissense variantpathogenic
rs1924900032X:18,582,617G/C—likely benign
rs587783071X:18,582,618A/Tmissense variantpathogenic
rs267608429X:18,582,622A/Gmissense variantpathogenic
rs2147132256X:18,582,630A/G—uncertain significance
rs2518834517X:18,582,631A/G—uncertain significance
rs1602263431X:18,582,632G/C—likely pathogenic
rs2147132270X:18,582,635C/T—likely benign
rs2147132274X:18,582,643G/A—pathogenic
rs267608430X:18,582,644T/C—pathogenic
rs753819165X:18,582,648T/G—likely benign
rs757030306X:18,582,650T/G—likely benign
rs1394726020X:18,582,654T/G—likely benign
rs199814742X:18,582,659A/G—likely benign
rs1057523365X:18,593,455A/G—likely benign
rs1157059419X:18,593,458A/G—likely benign
rs2518844484X:18,593,459T/C—likely benign
rs1925260633X:18,593,460T/G—likely benign
rs2147139512X:18,593,463T/G—uncertain significance
rs1376210446X:18,593,466C/T—likely benign
rs2518844516X:18,593,467A/G—likely benign
rs2147139522X:18,593,472A/C—likely pathogenic
rs587783399X:18,593,473G/A—pathogenic
rs1925261282X:18,593,482G/T—pathogenic
rs2518844542X:18,593,491G/T—pathogenic

Showing 100 of 911 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.