MYBPC1

myosin binding protein C1

Summary

This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants315 total

rsidPosition (GRCh37)AllelesClassClinVar
rs140571212:101,988,525T/C—benign
rs7817351612:101,988,756T/C—likely benign
rs169747712:101,988,774T/G—benign
rs14801134512:101,988,803C/T—likely benign
rs36826480912:101,988,836T/C—benign
rs249961559512:101,988,858C/G—uncertain significance
rs20147237212:101,988,865A/T—conflicting classifications of pathogenicity
rs11526188712:101,988,922T/C—likely benign
rs7455070912:101,988,980A/Gintron variant—
rs11721347612:101,989,000C/T—likely benign
rs11796560912:102,008,082A/G—likely benign
rs82507912:102,008,103T/A—benign
rs18161911812:102,008,265T/C—likely benign
rs130969139712:102,008,280A/G—uncertain significance
rs75889840312:102,008,292C/T—uncertain significance
rs76288033112:102,008,307A/C—uncertain significance
rs18278254312:102,010,686G/T—likely benign
rs82508712:102,010,740A/C—benign
rs11704939912:102,010,753A/G—likely benign
rs82508812:102,010,815T/C—benign
rs7484353812:102,011,002C/T—benign
rs77732012712:102,011,026G/T—uncertain significance
rs11457902412:102,011,038G/A—likely benign
rs7589981212:102,011,263C/T—likely benign
rs11697149312:102,011,317T/G—likely benign
rs1086075712:102,020,446T/Cintron variantbenign
rs82507312:102,020,488A/T—benign
rs11761803812:102,020,589C/T—likely benign
rs37307551812:102,020,640C/A—likely benign
rs14700762912:102,020,668C/T—likely benign
rs13817039312:102,020,675C/T—conflicting classifications of pathogenicity
rs116629319012:102,020,698A/T—uncertain significance
rs82507412:102,020,810G/A—benign
rs75144009212:102,021,547G/T—uncertain significance
rs74939140012:102,021,558C/T—uncertain significance
rs37335648812:102,021,559G/A—uncertain significance
rs37604046812:102,021,589G/A—benign
rs229346512:102,022,884T/C—likely benign
rs11175446212:102,023,100G/A—likely benign
rs14921304712:102,023,224T/C—benign
rs14338088412:102,023,225C/T—likely benign
rs75934244512:102,023,250G/A—uncertain significance
rs254746441412:102,023,305G/A—uncertain significance
rs254746454212:102,023,316A/G—uncertain significance
rs200489812:102,023,405C/T—benign
rs18996419812:102,023,582C/T—likely benign
rs188990210412:102,025,339C/T—uncertain significance
rs74853921512:102,025,361C/A—uncertain significance
rs88604882912:102,025,368A/T—uncertain significance
rs37480885612:102,025,373A/C—uncertain significance
rs188991906412:102,025,427A/T—uncertain significance
rs14066752512:102,025,479C/T—likely benign
rs77842480312:102,025,496G/A—uncertain significance
rs18685704512:102,025,506C/G—benign
rs11236424312:102,025,656G/T—likely benign
rs118198466912:102,025,799G/A—uncertain significance
rs254748240412:102,025,827A/G—uncertain significance
rs189001321512:102,025,836A/G—uncertain significance
rs254748263912:102,025,845C/T—uncertain significance
rs135983167012:102,025,859T/G—uncertain significance
rs77227422612:102,025,877G/A—uncertain significance
rs54620714012:102,025,884T/C—conflicting classifications of pathogenicity
rs76424086912:102,025,889A/T—uncertain significance
rs11278814212:102,025,925G/A—benign
rs6193567712:102,025,926C/G—benign
rs14799453112:102,026,064T/C—benign
rs11236861712:102,028,043T/C—likely benign
rs52936595312:102,028,322C/T—benign
rs7944286112:102,028,369T/C—likely benign
rs254750154612:102,028,388C/T—uncertain significance
rs75370376712:102,028,389T/C—likely benign
rs18352478212:102,028,392A/G—likely benign
rs444874512:102,028,397A/G—likely benign
rs7542074912:102,028,494T/C—likely benign
rs380313912:102,028,594G/A—likely benign
rs254751384612:102,030,452G/C—uncertain significance
rs19962874212:102,030,514C/T—conflicting classifications of pathogenicity
rs77794267012:102,030,515A/C—likely benign
rs1111090212:102,030,703G/A—likely benign
rs1703173312:102,036,136C/T—benign
rs254755905812:102,036,191G/A—uncertain significance
rs37637487712:102,036,206G/A—uncertain significance
rs38790665712:102,036,237T/Cmissense variantpathogenic
rs77909851112:102,036,239G/T—uncertain significance
rs159384684112:102,036,270T/C—pathogenic
rs56485628312:102,036,273G/Cmissense variantuncertain significance
rs76150335312:102,036,281C/A—benign
rs159384704512:102,036,290G/A—likely benign
rs229346812:102,036,305T/C—benign
rs142140565912:102,036,307T/Cmissense variantpathogenic
rs254756062312:102,036,318C/T—uncertain significance
rs156594322812:102,036,319T/G—pathogenic
rs254756073212:102,036,324C/G—likely pathogenic
rs11286931212:102,036,468G/A—likely benign
rs77190304712:102,038,492G/A—uncertain significance
rs39751542212:102,038,561C/Tstop gainedpathogenic
rs7338842112:102,038,606T/C—benign
rs7706064012:102,038,627A/G—benign
rs1111090912:102,039,855G/Cdownstream gene variant—
rs82505712:102,040,227A/G—benign

Showing 100 of 315 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.