SPTB

spectrin beta, erythrocytic

Summary

This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

Known Variants819 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53670205114:65,216,074C/T—uncertain significance
rs57039521514:65,216,086C/T—uncertain significance
rs5742198614:65,216,120C/T—benign
rs77038423314:65,216,131G/C—uncertain significance
rs76225378414:65,216,145T/G—uncertain significance
rs93985240314:65,216,146C/T—uncertain significance
rs20022815914:65,216,165G/A—benign
rs78117984914:65,216,180C/T—likely benign
rs37181419514:65,216,198G/A—uncertain significance
rs20128904114:65,216,718T/G—uncertain significance
rs155536474314:65,216,738G/A—uncertain significance
rs15090785814:65,216,741A/G—uncertain significance
rs208192064314:65,216,759C/T—uncertain significance
rs155536474614:65,216,769G/T—uncertain significance
rs250296020414:65,216,848C/G—uncertain significance
rs250297572514:65,220,292G/A—uncertain significance
rs19993808414:65,220,298G/A—uncertain significance
rs74768577914:65,220,315A/C—uncertain significance
rs14668869814:65,220,339C/T—uncertain significance
rs75472615714:65,220,348G/A—conflicting classifications of pathogenicity
rs19185027314:65,220,354G/A—uncertain significance
rs11246230914:65,220,358C/T—conflicting classifications of pathogenicity
rs74881401514:65,220,359G/A—likely benign
rs14405116914:65,220,361G/C—uncertain significance
rs37581687014:65,220,373C/T—conflicting classifications of pathogenicity
rs14382060014:65,220,374G/T—likely benign
rs18754863514:65,220,384G/T—uncertain significance
rs54813763314:65,220,407C/A—uncertain significance
rs125392400214:65,220,417G/A—uncertain significance
rs19011802114:65,220,458A/G—benign
rs18274558014:65,220,461C/G—likely benign
rs20075129014:65,220,464C/T—likely benign
rs20055650014:65,220,465G/A—conflicting classifications of pathogenicity
rs37684583614:65,220,466G/C—uncertain significance
rs134079145214:65,220,478G/T—uncertain significance
rs208198433914:65,220,482G/T—uncertain significance
rs14903375414:65,220,488A/C—likely benign
rs57173350514:65,220,496T/C—conflicting classifications of pathogenicity
rs74855349814:65,220,515C/G—likely benign
rs22957114:65,227,770C/Gintron variant—
rs18908614:65,233,123T/C—likely benign
rs57232590914:65,233,127C/T—uncertain significance
rs54358342314:65,233,193C/T—uncertain significance
rs88605061114:65,233,241G/A—uncertain significance
rs22960114:65,233,282C/G—likely benign
rs15123262614:65,233,425A/T—conflicting classifications of pathogenicity
rs75616474614:65,233,465C/T—conflicting classifications of pathogenicity
rs74912304214:65,233,476A/C—uncertain significance
rs37273327314:65,233,518G/T—conflicting classifications of pathogenicity
rs1162297714:65,234,008G/A—likely benign
rs88605061214:65,234,014C/A—uncertain significance
rs250303004014:65,234,015A/G—uncertain significance
rs86322330214:65,234,018C/A—pathogenic
rs14699047114:65,234,048A/G—conflicting classifications of pathogenicity
rs20078778114:65,234,054C/T—conflicting classifications of pathogenicity
rs19261818214:65,234,055G/A—uncertain significance
rs123588902614:65,234,066T/C—pathogenic
rs213947914514:65,234,067C/G—uncertain significance
rs7845908914:65,234,086G/T—likely benign
rs14389472214:65,234,407A/C—uncertain significance
rs12191865014:65,234,409C/Gmissense variantpathogenic
rs169065131114:65,234,419A/C—uncertain significance
rs14656173214:65,234,426C/T—conflicting classifications of pathogenicity
rs75684946114:65,234,427G/A—uncertain significance
rs12191864514:65,234,443C/Gmissense variantpathogenic
rs250303248314:65,234,458T/G—uncertain significance
rs74736000314:65,234,468C/T—likely benign
rs134570957214:65,234,481G/A—likely pathogenic
rs155536660714:65,234,505A/G—pathogenic
rs12191864914:65,234,526A/Cmissense variantpathogenic
rs208221278314:65,234,529C/T—likely pathogenic
rs122553965314:65,234,530A/T—conflicting classifications of pathogenicity
rs36784169214:65,234,532G/A—conflicting classifications of pathogenicity
rs92973449914:65,234,539C/G—uncertain significance
rs77570166314:65,234,544G/A—uncertain significance
rs12191864814:65,234,545A/Gmissense variantpathogenic
rs12191864714:65,234,547G/Cmissense variantpathogenic
rs14936211114:65,234,555C/T—likely benign
rs208221409714:65,234,559A/C—uncertain significance
rs250303309714:65,234,563G/A—pathogenic
rs146867575114:65,234,575G/A—uncertain significance
rs5618190614:65,234,585A/G—likely benign
rs76723097214:65,235,757C/A—uncertain significance
rs14049024014:65,235,758G/A—uncertain significance
rs36863473914:65,235,759G/C—likely benign
rs14483961014:65,235,764G/A—uncertain significance
rs14859313814:65,235,772C/T—uncertain significance
rs37648943714:65,235,773G/A—uncertain significance
rs250303840014:65,235,780C/T—likely pathogenic
rs122087261014:65,235,788C/T—uncertain significance
rs250303867914:65,235,821G/A—likely pathogenic
rs14566460914:65,235,830C/T—likely benign
rs7500041114:65,235,831G/A—conflicting classifications of pathogenicity
rs14651397614:65,235,832C/T—conflicting classifications of pathogenicity
rs20104966514:65,235,833G/C—uncertain significance
rs250303878914:65,235,837C/T—likely pathogenic
rs20047804714:65,236,301C/T—likely benign
rs37565412114:65,236,317G/C—uncertain significance
rs14014163314:65,236,330C/T—conflicting classifications of pathogenicity
rs14401643714:65,236,346C/T—uncertain significance

Showing 100 of 819 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.