MYO15A

myosin XVA

Summary

This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]

Known Variants2,551 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54884276917:18,012,031C/T—uncertain significance
rs89056687917:18,012,122C/A—uncertain significance
rs18518629417:18,012,131G/A—uncertain significance
rs18969327817:18,012,134C/T—uncertain significance
rs102735795017:18,012,135G/T—uncertain significance
rs85476517:18,012,730T/Cdownstream gene variant—
rs11372138517:18,016,170A/C——
rs74178217:18,019,712T/Cintron variant—
rs71226717:18,021,607G/A—benign
rs85481717:18,021,882T/C—benign
rs5582155717:18,021,912C/T—conflicting classifications of pathogenicity
rs76072823217:18,021,942T/A—uncertain significance
rs75160239517:18,021,971G/A—uncertain significance
rs85481817:18,022,039A/C—benign
rs77590765117:18,022,082G/C—uncertain significance
rs52758279817:18,022,119C/G—likely benign
rs76526448617:18,022,123G/A—likely benign
rs75051232417:18,022,135G/A—likely benign
rs214223536117:18,022,137A/T—uncertain significance
rs254517163217:18,022,139A/G—uncertain significance
rs77991583717:18,022,141G/A—likely benign
rs126427122517:18,022,146C/A—uncertain significance
rs75136601017:18,022,147C/G—likely benign
rs75475382217:18,022,165G/T—likely benign
rs14490948617:18,022,168G/A—conflicting classifications of pathogenicity
rs76960915217:18,022,177G/A—conflicting classifications of pathogenicity
rs77731466817:18,022,183G/T—likely benign
rs86695821117:18,022,191C/T—uncertain significance
rs254517199617:18,022,198G/T—likely benign
rs76895676717:18,022,204G/A—likely benign
rs254517206417:18,022,207G/A—likely benign
rs37538297717:18,022,213G/A—likely benign
rs76549585117:18,022,218G/C—uncertain significance
rs204583658817:18,022,222G/C—likely benign
rs135930087517:18,022,226A/C—uncertain significance
rs214223591017:18,022,231C/A—likely benign
rs254517225417:18,022,234C/T—likely benign
rs121533063617:18,022,237C/T—likely benign
rs54951115117:18,022,255C/A—likely benign
rs128261654917:18,022,264G/A—likely benign
rs74897304117:18,022,265G/A—uncertain significance
rs138142276517:18,022,274C/T—uncertain significance
rs36944235217:18,022,279C/T—likely benign
rs77005208917:18,022,284C/A—pathogenic
rs93325355917:18,022,289T/A—uncertain significance
rs132338524017:18,022,299G/A—uncertain significance
rs254517264717:18,022,300C/A—likely benign
rs76632134417:18,022,309C/T—likely benign
rs254517276317:18,022,318G/A—likely benign
rs75952387717:18,022,329G/A—uncertain significance
rs76761942717:18,022,330C/T—likely benign
rs204584034217:18,022,332A/G—uncertain significance
rs133924399917:18,022,347C/A—uncertain significance
rs75590212217:18,022,348C/A—likely benign
rs75337864317:18,022,354C/G—likely benign
rs77825879317:18,022,357G/A—likely benign
rs74543643817:18,022,363G/A—likely benign
rs18860904617:18,022,364T/A—conflicting classifications of pathogenicity
rs94239799217:18,022,367A/G—uncertain significance
rs77364851117:18,022,377C/T—conflicting classifications of pathogenicity
rs57188692517:18,022,378G/A—likely benign
rs254517310917:18,022,379C/T—pathogenic
rs214223708417:18,022,380A/C—uncertain significance
rs37329426317:18,022,383T/C—conflicting classifications of pathogenicity
rs76135384017:18,022,414G/A—likely benign
rs76500000517:18,022,425C/T—uncertain significance
rs20053322017:18,022,429C/G—likely benign
rs77955429817:18,022,442C/T—uncertain significance
rs254517345317:18,022,444C/A—likely benign
rs103438262117:18,022,454C/T—uncertain significance
rs204584595517:18,022,459T/C—likely benign
rs74971978717:18,022,466G/A—uncertain significance
rs254517375617:18,022,473T/G—uncertain significance
rs55585046617:18,022,483C/A—likely benign
rs57604175317:18,022,484G/A—uncertain significance
rs254517384717:18,022,486C/A—likely benign
rs87885323917:18,022,487——pathogenic
rs77573900517:18,022,488G/A—conflicting classifications of pathogenicity
rs76049566517:18,022,489G/A—likely benign
rs19952025517:18,022,495C/G—conflicting classifications of pathogenicity
rs156761850417:18,022,496A/G—uncertain significance
rs124938180017:18,022,504G/A—likely benign
rs75002210017:18,022,507C/G—conflicting classifications of pathogenicity
rs76261766017:18,022,508A/G—uncertain significance
rs76583538117:18,022,509C/T—uncertain significance
rs254517407917:18,022,519C/T—likely benign
rs204584908917:18,022,525C/T—likely benign
rs155553796117:18,022,534G/T—uncertain significance
rs254517425217:18,022,540C/G—likely benign
rs77840855017:18,022,546G/A—likely benign
rs75758145217:18,022,552C/A—likely benign
rs77944002217:18,022,553G/T—pathogenic
rs76272140117:18,022,561G/C—conflicting classifications of pathogenicity
rs78026274917:18,022,567C/T—likely benign
rs159774834217:18,022,572A/G—uncertain significance
rs76167075517:18,022,581T/C—conflicting classifications of pathogenicity
rs76953139117:18,022,585C/T—likely benign
rs94511164017:18,022,588C/T—likely benign
rs156761879017:18,022,591G/A—pathogenic
rs54620321817:18,022,598C/T—conflicting classifications of pathogenicity

Showing 100 of 2,551 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.