MYPN

myopalladin

Summary

Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

Known Variants1,371 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1082313510:69,853,286C/T——
rs68714510:69,853,492T/A——
rs116103429210:69,869,433G/A—likely benign
rs7571660810:69,869,489C/T—benign
rs14441662210:69,873,749T/C—likely benign
rs7731735410:69,873,836G/A—benign
rs11480887010:69,873,887G/C—likely benign
rs14723069910:69,874,208C/A—likely benign
rs7157898510:69,881,045A/T—benign
rs5635596110:69,881,082C/T—benign
rs1050929510:69,881,103A/T—benign
rs7157898810:69,881,151C/T—benign
rs249545906710:69,881,197T/C—uncertain significance
rs155483914010:69,881,208A/C—uncertain significance
rs77476692710:69,881,212T/C—uncertain significance
rs75994562210:69,881,216A/C—uncertain significance
rs204223974710:69,881,217G/C—uncertain significance
rs249545932510:69,881,218C/T—uncertain significance
rs156464681410:69,881,229A/G—uncertain significance
rs86902549010:69,881,230T/C—uncertain significance
rs77583888910:69,881,233C/G—uncertain significance
rs155483915010:69,881,234T/C—likely benign
rs76091654410:69,881,237G/A—likely benign
rs124141839810:69,881,242T/C—uncertain significance
rs76444438410:69,881,245G/A—uncertain significance
rs87665791910:69,881,249G/C—uncertain significance
rs137954068010:69,881,251G/A—uncertain significance
rs14014810510:69,881,254A/Gmissense variantpathogenic
rs14514215710:69,881,260C/G—conflicting classifications of pathogenicity
rs204224073910:69,881,262G/A—uncertain significance
rs120040563010:69,881,264A/C—uncertain significance
rs213399335410:69,881,266C/A—uncertain significance
rs249545977110:69,881,267C/T—likely benign
rs249545980610:69,881,273T/C—likely benign
rs75475481010:69,881,274C/G—uncertain significance
rs52935991510:69,881,275G/C—uncertain significance
rs77731180710:69,881,276G/A—likely benign
rs213399342210:69,881,279A/C—likely benign
rs75661755110:69,881,282C/T—likely benign
rs249546008710:69,881,290G/C—uncertain significance
rs131151869110:69,881,294T/C—likely benign
rs74643197610:69,881,295C/G—uncertain significance
rs73088016810:69,881,296G/A—uncertain significance
rs128754636410:69,881,298G/T—uncertain significance
rs77596160610:69,881,299C/T—uncertain significance
rs53363277210:69,881,300G/A—likely benign
rs76890425110:69,881,301G/C—uncertain significance
rs104851262110:69,881,304C/T—uncertain significance
rs76195015510:69,881,307T/A—uncertain significance
rs54911698310:69,881,308C/T—uncertain significance
rs249546035210:69,881,313A/G—uncertain significance
rs213399359910:69,881,314A/T—uncertain significance
rs75051697910:69,881,315C/G—uncertain significance
rs75940065710:69,881,316C/T—uncertain significance
rs75243953510:69,881,323A/G—uncertain significance
rs213399368210:69,881,327C/A—uncertain significance
rs129786159510:69,881,328G/A—uncertain significance
rs101088993610:69,881,333T/C—likely benign
rs77744680410:69,881,335C/T—conflicting classifications of pathogenicity
rs99981790610:69,881,339T/C—likely benign
rs75349700310:69,881,344C/A—uncertain significance
rs249546069310:69,881,346G/A—uncertain significance
rs204224324810:69,881,349G/A—uncertain significance
rs204224330310:69,881,353G/T—uncertain significance
rs204224336110:69,881,356G/C—uncertain significance
rs204224344810:69,881,358G/A—uncertain significance
rs129883309610:69,881,367G/A—uncertain significance
rs37076871510:69,881,380A/C—uncertain significance
rs37443423310:69,881,381T/C—likely benign
rs213399395410:69,881,384T/C—likely benign
rs14755372310:69,881,389C/T—uncertain significance
rs249546105310:69,881,390C/A—likely benign
rs103558850010:69,881,399C/G—uncertain significance
rs148832935310:69,881,402A/G—conflicting classifications of pathogenicity
rs249546114810:69,881,406G/T—pathogenic
rs116106713110:69,881,407A/G—uncertain significance
rs96025659710:69,881,411A/G—likely benign
rs204224426710:69,881,412G/C—uncertain significance
rs96086994510:69,881,414C/A—uncertain significance
rs204224445010:69,881,417A/C—uncertain significance
rs249546129810:69,881,420T/C—likely benign
rs74734777810:69,881,425A/T—uncertain significance
rs249546138610:69,881,432A/G—likely benign
rs156464707310:69,881,434G/A—uncertain significance
rs204224479710:69,881,437T/C—uncertain significance
rs213399415010:69,881,438G/A—likely benign
rs76896841010:69,881,446A/G—conflicting classifications of pathogenicity
rs249546155310:69,881,449A/G—uncertain significance
rs77690175610:69,881,451G/T—uncertain significance
rs37694573310:69,881,454C/G—uncertain significance
rs128864738210:69,881,461A/G—uncertain significance
rs249546173610:69,881,463A/C—uncertain significance
rs77323370210:69,881,464A/T—uncertain significance
rs76304308410:69,881,466G/A—conflicting classifications of pathogenicity
rs37738986110:69,881,476C/G—conflicting classifications of pathogenicity
rs37162328210:69,881,477T/C—likely benign
rs75367756610:69,881,484A/C—likely benign
rs75682322810:69,881,490C/T—conflicting classifications of pathogenicity
rs74993544210:69,881,499C/G—uncertain significance
rs204224606510:69,881,502G/A—uncertain significance

Showing 100 of 1,371 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.