DNAH5

dynein axonemal heavy chain 5

Summary

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]

Known Variants4,582 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1495897105:13,690,441G/A—uncertain significance
rs7636357205:13,690,480C/T—uncertain significance
rs1155207095:13,690,502A/T—benign
rs5744385245:13,690,587C/T—uncertain significance
rs1442657055:13,690,591G/A—likely benign
rs777011435:13,690,704G/A—likely benign
rs8860599305:13,690,732C/A—uncertain significance
rs8860599315:13,690,751A/C—uncertain significance
rs9170559725:13,690,795A/T—uncertain significance
rs1159077065:13,690,937G/A—likely benign
rs1484674645:13,690,974A/G—uncertain significance
rs28961115:13,691,045T/C—benign
rs13868747715:13,691,173T/C—uncertain significance
rs7649245025:13,691,202T/C—uncertain significance
rs14275229565:13,691,210A/G—uncertain significance
rs8860599325:13,691,291T/C—uncertain significance
rs1460404485:13,691,318C/T—benign
rs9724890465:13,691,396T/C—uncertain significance
rs772896485:13,691,444C/G—benign
rs1895385345:13,691,530C/T—uncertain significance
rs1399798565:13,691,648C/T—uncertain significance
rs5642032245:13,691,666C/T—uncertain significance
rs5413238965:13,691,667G/A—uncertain significance
rs7782075155:13,691,738C/T—uncertain significance
rs8669317965:13,691,744C/T—uncertain significance
rs9553368905:13,691,788G/A—uncertain significance
rs7710159635:13,691,802C/T—uncertain significance
rs9361692935:13,691,812A/G—uncertain significance
rs5278635865:13,691,993C/T—uncertain significance
rs8860599335:13,692,001C/T—uncertain significance
rs1511433475:13,692,009G/A—conflicting classifications of pathogenicity
rs17407519705:13,692,099G/C—likely benign
rs12542874105:13,692,105A/G—likely benign
rs15540127995:13,692,106C/T—uncertain significance
rs9236780395:13,692,119C/A—uncertain significance
rs14085687955:13,692,124C/G—uncertain significance
rs7716131975:13,692,125G/A—uncertain significance
rs12790088975:13,692,128G/A—uncertain significance
rs17407575045:13,692,129C/T—likely benign
rs1475834075:13,692,131C/T—conflicting classifications of pathogenicity
rs7484944245:13,692,141A/G—likely benign
rs8860599345:13,692,143G/T—uncertain significance
rs7702444535:13,692,151G/T—conflicting classifications of pathogenicity
rs1916623655:13,692,161G/A—likely benign
rs7711087855:13,692,164C/A—likely benign
rs7742795885:13,692,170C/T—conflicting classifications of pathogenicity
rs3756431285:13,692,171G/A—likely benign
rs17407648485:13,692,177G/A—likely benign
rs2005555815:13,692,189C/T—likely benign
rs1420362665:13,692,190G/A—conflicting classifications of pathogenicity
rs3677094275:13,692,193C/T—conflicting classifications of pathogenicity
rs7581127795:13,692,194G/A—pathogenic
rs14793329245:13,692,195A/C—likely benign
rs13970449415:13,692,203T/C—uncertain significance
rs13200362445:13,692,208T/C—uncertain significance
rs7604281775:13,692,215G/T—uncertain significance
rs14527135745:13,692,219G/C—likely benign
rs7702873755:13,692,221A/G—uncertain significance
rs3690944785:13,692,222G/T—pathogenic
rs7498624825:13,692,223T/C—uncertain significance
rs25464477965:13,692,228C/T—likely benign
rs7713188765:13,692,230G/A—likely benign
rs7745273225:13,692,232G/A—uncertain significance
rs17407743485:13,692,234A/G—uncertain significance
rs13652753045:13,692,239G/A—pathogenic
rs7720867155:13,692,248C/T—likely benign
rs7756987295:13,692,251A/C—likely benign
rs25464479405:13,692,254A/G—likely benign
rs7608233805:13,692,255C/A—likely benign
rs25464479575:13,692,256A/G—likely benign
rs10365590685:13,692,257T/C—likely benign
rs2017649845:13,692,261A/C—likely benign
rs7535649875:13,692,263A/G—likely benign
rs21663375:13,692,279A/T—benign
rs797822515:13,700,718G/A—benign
rs25464665615:13,700,734T/C—likely benign
rs25464665765:13,700,738A/G—likely benign
rs7472912335:13,700,753G/A—likely benign
rs13757817645:13,700,754T/C—conflicting classifications of pathogenicity
rs7688466785:13,700,758C/T—uncertain significance
rs17419721325:13,700,759T/C—likely benign
rs7765309995:13,700,768C/G—likely benign
rs25464666595:13,700,771T/G—likely benign
rs7615460285:13,700,773T/C—uncertain significance
rs7650326395:13,700,775A/G—likely benign
rs2008916915:13,700,776C/G—likely benign
rs3742210535:13,700,783C/G—conflicting classifications of pathogenicity
rs7660446815:13,700,786C/T—likely benign
rs21264038655:13,700,792G/C—likely benign
rs12831089235:13,700,795C/T—likely benign
rs7510906015:13,700,797C/A—likely benign
rs7520102165:13,700,800T/C—conflicting classifications of pathogenicity
rs7575726285:13,700,814A/G—likely benign
rs15610719625:13,700,816G/T—likely benign
rs7792677475:13,700,826T/A—likely benign
rs25464669195:13,700,829C/T—uncertain significance
rs7464451455:13,700,831C/T—likely benign
rs17419816705:13,700,834G/C—uncertain significance
rs11613033715:13,700,839A/G—pathogenic
rs7801591775:13,700,840G/A—likely benign

Showing 100 of 4,582 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.