PPFIA4

PPFI scaffold protein A4

Summary

PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]

Known Variants40 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1143825391:203,012,539A/G—benign
rs7566917631:203,013,128C/T—uncertain significance
rs12736775181:203,022,894C/G—uncertain significance
rs5491533961:203,022,947C/T—uncertain significance
rs13386045771:203,022,959G/A—uncertain significance
rs11720017871:203,022,999C/T—likely benign
rs1996767901:203,023,013C/G—uncertain significance
rs8665458621:203,023,052C/A—uncertain significance
rs7741708471:203,024,586C/T—uncertain significance
rs7473441701:203,024,615C/T—uncertain significance
rs7691216341:203,024,643T/G—uncertain significance
rs16608751731:203,024,663A/G—uncertain significance
rs16608778651:203,024,682C/A—uncertain significance
rs1829059181:203,024,756C/T—uncertain significance
rs7630762401:203,024,757G/T—uncertain significance
rs7507517441:203,024,769A/G—uncertain significance
rs25279217951:203,025,276A/G—uncertain significance
rs5702803471:203,025,614C/G—uncertain significance
rs7787040691:203,026,013G/A—uncertain significance
rs107539331:203,026,214T/A——
rs45907321:203,028,711C/Gintron variant—
rs16612706881:203,029,406C/T—uncertain significance
rs7731347341:203,029,417G/A—uncertain significance
rs1898863981:203,029,905A/Tintron variant—
rs7721771311:203,030,110G/A—uncertain significance
rs49509131:203,032,153A/T——
rs7779404511:203,032,989A/T—uncertain significance
rs7680075451:203,033,023C/T—uncertain significance
rs3707607811:203,033,097C/T—uncertain significance
rs1454058191:203,033,139C/T—likely benign
rs25279844991:203,036,837A/G—uncertain significance
rs3720023251:203,037,606G/T—uncertain significance
rs7596706011:203,037,706G/A—uncertain significance
rs8712981:203,039,602C/Gintron variant—
rs1889803391:203,040,855G/A—benign
rs13906034501:203,040,887A/G—uncertain significance
rs7789413481:203,044,754G/A—uncertain significance
rs5473672671:203,044,789A/T—uncertain significance
rs7586371021:203,044,814C/T—uncertain significance
rs37378801:203,046,675G/C3 prime UTR variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.