DNAH14

dynein axonemal heavy chain 14

Summary

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]

Known Variants353 total

rsidPosition (GRCh37)AllelesClassClinVar
rs617450641:225,140,459G/Tlikely benign
rs12077139361:225,142,685A/Tuncertain significance
rs25284681191:225,142,762G/Cuncertain significance
rs7740516361:225,142,780T/Cuncertain significance
rs2010897631:225,147,932A/Guncertain significance
rs1998334081:225,147,978C/Tuncertain significance
rs2021497271:225,147,993A/Guncertain significance
rs7505064121:225,152,180G/Auncertain significance
rs1923453241:225,152,222C/Tconflicting classifications of pathogenicity
rs7477928361:225,152,223G/Auncertain significance
rs412673491:225,152,253C/Tlikely benign
rs2021218331:225,152,273G/Auncertain significance
rs7665720291:225,152,291A/Glikely benign
rs25011551:225,155,114A/Tbenign
rs3757916901:225,155,136C/Tuncertain significance
rs1998142051:225,155,244T/Auncertain significance
rs20612629121:225,155,283A/Guncertain significance
rs1469386811:225,155,286G/Alikely benign
rs14134240481:225,156,467A/Guncertain significance
rs10170452171:225,156,501T/Cuncertain significance
rs9954414821:225,156,558A/Glikely benign
rs9699587211:225,156,576G/Auncertain significance
rs14181821501:225,156,578T/Cuncertain significance
rs25289816161:225,161,845G/Auncertain significance
rs10316150591:225,190,511T/Auncertain significance
rs7469284881:225,195,121A/Guncertain significance
rs1498933931:225,195,144T/Clikely benign
rs1418599021:225,201,102C/Tintron variant
rs5451740741:225,211,467C/Gconflicting classifications of pathogenicity
rs8897731231:225,211,468G/Auncertain significance
rs25271407081:225,211,522C/Auncertain significance
rs25274502251:225,226,396A/Tuncertain significance
rs7473250761:225,226,404A/Guncertain significance
rs5444722621:225,226,478A/Cuncertain significance
rs25011071:225,230,608C/Tbenign
rs5333281181:225,230,661A/Cuncertain significance
rs3715757181:225,230,807A/Guncertain significance
rs7482347671:225,230,808T/Cuncertain significance
rs10545787891:225,231,617T/Auncertain significance
rs9359501501:225,231,670A/Guncertain significance
rs13187710831:225,237,917A/Guncertain significance
rs7463555851:225,237,924C/Tuncertain significance
rs10140542901:225,237,971A/Guncertain significance
rs10071605291:225,238,022A/Cuncertain significance
rs5739875481:225,238,027A/Glikely benign
rs12795355891:225,239,168A/Guncertain significance
rs13343027221:225,239,171A/Guncertain significance
rs1401643191:225,239,186A/Glikely benign
rs7786959261:225,239,198A/Cuncertain significance
rs7775661891:225,239,273T/Cuncertain significance
rs5762013091:225,239,282G/Auncertain significance
rs10356604951:225,239,353G/Auncertain significance
rs7807365171:225,239,420T/Cuncertain significance
rs7542768541:225,239,421A/Tuncertain significance
rs25277540601:225,239,427A/Guncertain significance
rs14476456331:225,239,430A/Guncertain significance
rs7697187321:225,266,943A/Tuncertain significance
rs31055591:225,266,966C/Gbenign
rs13547268971:225,267,011A/Guncertain significance
rs15729153981:225,267,111T/Cuncertain significance
rs5703738841:225,267,136A/Tuncertain significance
rs7588315861:225,267,144T/Cuncertain significance
rs5668060851:225,268,090C/Tuncertain significance
rs12970181281:225,268,091C/Tuncertain significance
rs1153660801:225,268,106A/Cbenign
rs7665894511:225,268,144A/Tuncertain significance
rs13589748461:225,268,159G/Auncertain significance
rs10181546471:225,268,183A/Cuncertain significance
rs25284275521:225,268,184A/Tuncertain significance
rs12468953161:225,268,289T/Cuncertain significance
rs731335441:225,268,294G/Abenign
rs25284322541:225,268,304C/Tuncertain significance
rs31286511:225,268,343A/Gbenign
rs31286521:225,268,346G/Abenign
rs20730133101:225,268,352C/Guncertain significance
rs9167875211:225,268,373C/Auncertain significance
rs1152407881:225,268,427A/Tlikely benign
rs9138780451:225,270,255A/Cuncertain significance
rs5692535221:225,270,277C/Tuncertain significance
rs25284902401:225,270,298G/Cuncertain significance
rs25284932561:225,270,362G/Auncertain significance
rs7774668201:225,270,398C/Tuncertain significance
rs31286551:225,270,409T/Abenign
rs2010156461:225,270,424A/Tlikely benign
rs31286581:225,273,248G/Tbenign
rs7525985641:225,273,253A/Cuncertain significance
rs5488748461:225,273,265A/Cuncertain significance
rs7777858641:225,273,271A/Guncertain significance
rs20736651201:225,273,273G/Cuncertain significance
rs25285753571:225,273,324A/Cuncertain significance
rs12770844521:225,273,391T/Guncertain significance
rs5695666211:225,273,406C/Tuncertain significance
rs5304851441:225,273,413T/Auncertain significance
rs10260274821:225,273,453G/Auncertain significance
rs2017079471:225,273,494A/Guncertain significance
rs3715220121:225,284,893G/Tuncertain significance
rs9075668481:225,284,905A/Guncertain significance
rs8685810951:225,284,913C/Auncertain significance
rs7682256571:225,288,416C/Tlikely pathogenic
rs9566314121:225,288,419C/Tuncertain significance

Showing 100 of 353 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.