CCDC40

coiled-coil domain 40 molecular ruler complex subunit

Summary

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Known Variants833 total

rsidPosition (GRCh37)AllelesClassClinVar
rs376444117:78,010,250G/T—benign
rs375204217:78,010,413C/A—benign
rs7343768117:78,010,426C/T—likely benign
rs251027936217:78,010,463T/G—uncertain significance
rs214355006417:78,010,464G/A—uncertain significance
rs77694718617:78,010,472C/T—uncertain significance
rs141925298517:78,010,473G/C—likely benign
rs251027939817:78,010,474G/A—uncertain significance
rs53380175617:78,010,479C/T—likely benign
rs76531979717:78,010,480G/A—uncertain significance
rs76636957017:78,010,482G/A—likely benign
rs75129863517:78,010,484C/G—uncertain significance
rs37759964717:78,010,489C/G—uncertain significance
rs93419520617:78,010,495G/A—uncertain significance
rs55857417017:78,010,497C/G—likely benign
rs77270608917:78,010,498G/A—likely benign
rs76909243717:78,010,501C/G—benign
rs57705677417:78,010,502C/G—likely benign
rs375204117:78,010,548A/C—benign
rs375204017:78,010,710C/T—benign
rs376444017:78,011,691G/A—benign
rs376443917:78,011,731G/T—benign
rs376443817:78,011,842A/G—benign
rs14608193917:78,011,865G/A—likely benign
rs99769521017:78,011,915A/C—likely benign
rs11182234717:78,011,924C/G—uncertain significance
rs54117296617:78,011,930C/T—uncertain significance
rs77763925117:78,011,931G/A—likely benign
rs214357015017:78,011,932G/A—uncertain significance
rs214357018417:78,011,940A/G—likely benign
rs14165038517:78,011,943G/A—benign
rs78162159917:78,011,961G/A—likely benign
rs155588934317:78,011,975A/G—likely benign
rs203717904717:78,011,987T/C—likely pathogenic
rs251028241517:78,011,989A/G—uncertain significance
rs76998916217:78,011,992T/C—likely benign
rs118717886617:78,011,999T/C—likely benign
rs125566448017:78,012,000G/A—likely benign
rs807495617:78,012,003C/A—benign
rs141852173617:78,012,005G/A—likely benign
rs13810851017:78,012,200C/T—benign
rs14317562617:78,012,223G/A—likely benign
rs14224835817:78,013,411A/G—benign
rs251028368617:78,013,599A/G—likely benign
rs133140562917:78,013,619A/G—likely benign
rs106050171817:78,013,630A/G—uncertain significance
rs138002440417:78,013,654C/A—uncertain significance
rs75651134217:78,013,658C/T—likely benign
rs228952617:78,013,659G/A—uncertain significance
rs130165702017:78,013,664C/T—likely benign
rs74953455517:78,013,677G/A—uncertain significance
rs203722821517:78,013,683G/A—conflicting classifications of pathogenicity
rs77094201617:78,013,685C/T—likely benign
rs120694847217:78,013,691C/A—likely benign
rs251028383417:78,013,692C/G—uncertain significance
rs56745264817:78,013,696C/T—uncertain significance
rs18500645917:78,013,697G/A—likely benign
rs146993560317:78,013,706A/C—likely benign
rs251028387917:78,013,715G/T—uncertain significance
rs79472751217:78,013,717G/A—uncertain significance
rs228952717:78,013,724G/T—likely benign
rs251028392217:78,013,742A/G—likely benign
rs121113454117:78,013,746G/A—uncertain significance
rs156866717017:78,013,749G/A—uncertain significance
rs19024922217:78,013,756A/T—uncertain significance
rs214357689117:78,013,757A/G—likely benign
rs39751539317:78,013,765——pathogenic
rs20222044217:78,013,774A/G—uncertain significance
rs74592589017:78,013,775T/C—likely benign
rs159847537817:78,013,784T/C—likely benign
rs37684248217:78,013,791G/A—uncertain significance
rs214357708217:78,013,798A/T—uncertain significance
rs251028399817:78,013,805C/T—likely benign
rs76176919317:78,013,807A/G—uncertain significance
rs76945827417:78,013,825C/T—uncertain significance
rs77278960317:78,013,826G/A—likely benign
rs139844924617:78,013,832G/A—likely benign
rs123149814017:78,013,844T/C—likely benign
rs20170959217:78,013,851A/G—conflicting classifications of pathogenicity
rs122921918317:78,013,852C/A—uncertain significance
rs53906221317:78,013,853G/A—likely benign
rs75419437317:78,013,861C/T—uncertain significance
rs56196162117:78,013,862G/A—likely benign
rs75062886217:78,013,872C/A—uncertain significance
rs37558606317:78,013,901A/G—conflicting classifications of pathogenicity
rs55737577817:78,013,904C/T—likely benign
rs75887901117:78,013,905G/A—uncertain significance
rs119822958417:78,013,907T/C—likely benign
rs76949961917:78,013,915G/C—uncertain significance
rs37120724917:78,013,916C/T—likely benign
rs20119108217:78,013,917G/A—conflicting classifications of pathogenicity
rs141106021017:78,013,920G/A—uncertain significance
rs75911227717:78,013,925T/C—likely benign
rs251028420017:78,013,926G/T—uncertain significance
rs97240955217:78,013,931C/T—likely benign
rs76455191417:78,013,932C/T—pathogenic
rs156866760917:78,013,941C/T—pathogenic
rs14787974817:78,013,955C/T—likely benign
rs251028424717:78,013,957G/C—uncertain significance
rs75166139417:78,013,978G/A—uncertain significance

Showing 100 of 833 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.