ODAD2

outer dynein arm docking complex subunit 2

Summary

The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Known Variants509 total

rsidPosition (GRCh37)AllelesClassClinVar
rs281550710:28,100,603G/Tdownstream gene variant—
rs106157710:28,101,311C/T—benign
rs77092714510:28,101,447G/A—likely benign
rs373718410:28,101,455C/T—uncertain significance
rs137914476010:28,101,462T/G—likely benign
rs76748961810:28,101,463G/C—uncertain significance
rs183581968410:28,101,466G/A—uncertain significance
rs20093423610:28,101,468A/G—likely benign
rs55641604510:28,101,477C/A—uncertain significance
rs37562256010:28,101,481C/T—uncertain significance
rs74536478410:28,101,482G/A—uncertain significance
rs13858894210:28,101,490G/A—conflicting classifications of pathogenicity
rs213270883710:28,101,499C/T—uncertain significance
rs54692891210:28,101,507A/G—likely benign
rs77223913710:28,101,520T/A—uncertain significance
rs117615021610:28,101,523T/C—uncertain significance
rs75421436710:28,101,532G/T—uncertain significance
rs86639717010:28,101,546C/T—likely benign
rs213270971110:28,101,552A/T—likely benign
rs1235541210:28,120,718T/A——
rs1692837110:28,149,525G/A—benign
rs37425678410:28,149,536A/G—likely benign
rs249193602110:28,149,557T/C—likely benign
rs116772375110:28,149,562C/T—uncertain significance
rs76877492210:28,149,564C/T—uncertain significance
rs155479274910:28,149,573T/G—uncertain significance
rs249193702510:28,149,575C/T—uncertain significance
rs20190886410:28,149,576A/C—uncertain significance
rs249193764810:28,149,589T/C—uncertain significance
rs14998119410:28,149,592C/T—likely benign
rs14829526410:28,149,593G/A—likely benign
rs249193774710:28,149,594G/C—uncertain significance
rs36902242310:28,149,595C/T—uncertain significance
rs7455513810:28,149,596G/A—likely benign
rs249193850910:28,149,614C/T—likely benign
rs37133893010:28,149,629C/A—likely benign
rs75819222610:28,149,630G/A—uncertain significance
rs14630951110:28,149,631C/T—uncertain significance
rs13974173610:28,149,633C/A—uncertain significance
rs14307273510:28,149,634G/A—uncertain significance
rs15065539310:28,149,640C/T—conflicting classifications of pathogenicity
rs13993417810:28,149,641G/A—likely benign
rs14968795910:28,149,642T/C—uncertain significance
rs14552672210:28,149,652T/G—uncertain significance
rs249194053310:28,149,656T/C—likely benign
rs77263659910:28,149,666C/T—uncertain significance
rs77629355210:28,149,667G/T—uncertain significance
rs75008156210:28,149,674T/G—likely benign
rs20183429810:28,149,678G/T—uncertain significance
rs136985496110:28,149,691G/A—uncertain significance
rs13957793410:28,149,696C/T—uncertain significance
rs137946856710:28,149,698G/A—likely benign
rs55362332910:28,149,732C/T—uncertain significance
rs74617384210:28,149,733G/A—uncertain significance
rs77255260410:28,149,736A/G—uncertain significance
rs57507561510:28,149,752A/C—uncertain significance
rs3518192710:28,149,770G/T—benign
rs129726109610:28,149,777T/C—pathogenic
rs183999507510:28,149,778G/C—uncertain significance
rs213332638410:28,149,781C/A—likely benign
rs7753086310:28,149,810C/T—likely benign
rs5872005810:28,149,983C/T—benign
rs5954047310:28,150,008C/T—benign
rs1100674710:28,150,935A/T——
rs11809599910:28,151,070T/A—likely benign
rs184011289810:28,151,353T/C—likely benign
rs75916954110:28,151,355T/C—likely benign
rs213334206510:28,151,362C/T—likely pathogenic
rs58777704710:28,151,382A/Cmissense variantpathogenic
rs118896565710:28,151,388G/T—uncertain significance
rs156443955910:28,151,397C/T—likely pathogenic
rs249196422610:28,151,431C/A—uncertain significance
rs249196487310:28,151,464T/C—uncertain significance
rs58777704910:28,151,487G/Tstop gainedpathogenic
rs121936298610:28,151,499T/C—uncertain significance
rs77834831510:28,151,502A/G—uncertain significance
rs77515747410:28,151,524C/T—uncertain significance
rs116421739110:28,151,528G/A—likely benign
rs37614389910:28,151,532C/T—uncertain significance
rs15119341910:28,151,544C/T—uncertain significance
rs76542879410:28,151,545C/T—uncertain significance
rs1100675210:28,160,836T/Cintron variant—
rs7412714710:28,196,469C/T—benign
rs90043255910:28,196,573A/G—likely benign
rs11171087210:28,196,581T/C—benign
rs37470504410:28,196,583C/T—likely benign
rs37264756010:28,196,584G/C—likely benign
rs249298503710:28,196,599T/C—uncertain significance
rs249298511110:28,196,603T/C—likely benign
rs76795979410:28,196,604G/T—likely benign
rs249298539410:28,196,607G/A—likely benign
rs75662405210:28,196,609A/G—uncertain significance
rs14504219910:28,196,610T/C—likely benign
rs20036324810:28,196,630C/T—likely benign
rs53525058410:28,196,631G/A—likely benign
rs124128073710:28,196,635G/A—uncertain significance
rs37192476110:28,196,642C/T—uncertain significance
rs55326461710:28,196,643G/A—likely benign
rs148445192110:28,196,648G/T—uncertain significance
rs184370202510:28,196,671C/G—uncertain significance

Showing 100 of 509 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.