FERMT3

FERM domain containing kindlin 3

Summary

Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]

Known Variants454 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75309340211:63,974,838T/G—uncertain significance
rs55154672311:63,974,841C/T—uncertain significance
rs76721332511:63,974,842G/A—likely benign
rs133637095711:63,974,845G/A—likely benign
rs74984085711:63,974,854A/G—likely benign
rs125849807911:63,974,860C/T—likely benign
rs20050989811:63,974,861G/A—uncertain significance
rs14798798911:63,974,863G/T—likely benign
rs14164083511:63,974,864G/A—uncertain significance
rs194633502611:63,974,870A/G—uncertain significance
rs37100333211:63,974,872C/T—likely benign
rs37559538111:63,974,873G/A—uncertain significance
rs77879917411:63,974,877C/G—uncertain significance
rs117955649811:63,974,878G/A—likely benign
rs74798418711:63,974,881A/G—likely benign
rs249594880011:63,974,882T/C—uncertain significance
rs12191829611:63,974,884G/Astop gainedpathogenic
rs77211569011:63,974,888C/G—uncertain significance
rs15050029911:63,974,892G/A—uncertain significance
rs213482803711:63,974,910A/G—uncertain significance
rs13952004511:63,974,911G/A—likely benign
rs14425675611:63,974,922C/T—uncertain significance
rs14731199511:63,974,923C/T—likely benign
rs249594919211:63,974,926G/A—likely benign
rs75341836111:63,974,929G/A—likely benign
rs124976158311:63,974,936C/T—likely benign
rs249594939811:63,974,943T/C—uncertain significance
rs36823284311:63,974,947T/C—likely benign
rs213482821111:63,974,949G/C—uncertain significance
rs77022047711:63,974,956G/A—likely benign
rs20096060311:63,974,960A/G—uncertain significance
rs14585451911:63,974,962C/T—likely benign
rs77271173111:63,974,965C/T—likely benign
rs14900056011:63,974,966G/A—likely benign
rs76507271511:63,974,974C/T—likely benign
rs194633872411:63,974,976T/A—uncertain significance
rs36906212011:63,974,980G/A—likely benign
rs146806720111:63,974,991A/G—uncertain significance
rs14281544111:63,974,995C/G—likely benign
rs57769194011:63,975,006C/T—likely benign
rs101742770711:63,975,007G/A—likely benign
rs100978047911:63,975,013C/G—likely benign
rs8028095511:63,977,947C/T—benign
rs249596762711:63,978,063T/C—likely benign
rs7803851611:63,978,067C/T—likely benign
rs37215210511:63,978,071C/T—likely benign
rs18876829411:63,978,072G/A—benign
rs11433840511:63,978,077C/T—likely benign
rs36934043211:63,978,078C/T—likely benign
rs128649932911:63,978,081A/C—pathogenic
rs76935243311:63,978,085C/A—uncertain significance
rs37608464511:63,978,086G/A—uncertain significance
rs14693204111:63,978,128A/C—benign
rs120035430311:63,978,135G/C—uncertain significance
rs213484178911:63,978,141G/A—likely benign
rs76157752911:63,978,150C/T—likely benign
rs13786569111:63,978,171C/T—likely benign
rs141042943911:63,978,180G/A—likely benign
rs37041838211:63,978,184G/A—uncertain significance
rs75900362811:63,978,186C/T—likely benign
rs77981967711:63,978,187G/A—uncertain significance
rs37331511511:63,978,190C/T—uncertain significance
rs55282955811:63,978,191G/A—uncertain significance
rs249596848811:63,978,195C/T—likely benign
rs194641640411:63,978,197T/G—uncertain significance
rs249596858611:63,978,209A/G—uncertain significance
rs249596866111:63,978,216G/A—likely benign
rs14504866011:63,978,220G/A—uncertain significance
rs37527719911:63,978,225C/T—likely benign
rs57287410511:63,978,229C/T—uncertain significance
rs143013810811:63,978,230G/A—uncertain significance
rs123489113411:63,978,235C/T—uncertain significance
rs36756828111:63,978,237C/G—likely benign
rs13870496711:63,978,242G/A—conflicting classifications of pathogenicity
rs55555064511:63,978,245G/A—uncertain significance
rs75505362311:63,978,246C/T—likely benign
rs76536803211:63,978,247G/A—uncertain significance
rs14032815211:63,978,253C/T—conflicting classifications of pathogenicity
rs14541946911:63,978,254G/A—uncertain significance
rs194641837711:63,978,273C/G—likely benign
rs144623265911:63,978,279C/T—likely benign
rs116536137911:63,978,291T/C—likely benign
rs132526116711:63,978,307C/T—uncertain significance
rs77307716911:63,978,308G/A—uncertain significance
rs143308383011:63,978,311T/G—uncertain significance
rs249596939911:63,978,314T/G—uncertain significance
rs20124100211:63,978,327C/T—likely benign
rs37584196211:63,978,328G/A—likely benign
rs57734997411:63,978,335T/G—likely benign
rs125928170211:63,978,514C/T—likely benign
rs7881042911:63,978,534T/C—benign
rs76218171311:63,978,538G/A—uncertain significance
rs194642464411:63,978,548C/T—uncertain significance
rs94646417011:63,978,549C/T—likely benign
rs76808479311:63,978,550C/T—likely benign
rs75069098911:63,978,556C/T—uncertain significance
rs213484370811:63,978,558G/C—likely benign
rs77851138611:63,978,560C/G—uncertain significance
rs75238396811:63,978,561T/G—likely benign
rs213484374811:63,978,564T/C—likely benign

Showing 100 of 454 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.