NHS

NHS actin remodeling regulator

Summary

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Known Variants445 total

rsidPosition (GRCh37)AllelesClassClinVar
rs374751380X:17,393,302G/T—likely benign
rs567948106X:17,393,311C/T—likely benign
rs62586064X:17,393,326G/A—benign
rs1217306732X:17,393,878G/T—uncertain significance
rs794726963X:17,393,929C/T—uncertain significance
rs1435156319X:17,393,943C/A—likely benign
rs1410012475X:17,393,961G/C—likely benign
rs1459079507X:17,393,966G/T—uncertain significance
rs1159833129X:17,393,970C/A—likely benign
rs1465452744X:17,393,974G/C—uncertain significance
rs954088519X:17,393,980C/A—conflicting classifications of pathogenicity
rs893345497X:17,393,986C/T—uncertain significance
rs1284289077X:17,393,987C/G—no classification for the single variant
rs104894881X:17,393,995C/Tstop gainedpathogenic
rs1207460750X:17,394,000G/T—likely benign
rs1486316948X:17,394,007C/G—uncertain significance
rs1401931825X:17,394,016C/G—uncertain significance
rs794726961X:17,394,027C/T—uncertain significance
rs727504039X:17,394,032C/T—conflicting classifications of pathogenicity
rs1178401029X:17,394,045G/A—likely benign
rs1044538909X:17,394,056G/A—uncertain significance
rs1443874473X:17,394,057C/A—likely benign
rs1366527238X:17,394,061G/A—uncertain significance
rs2519619617X:17,394,063C/T—likely benign
rs1205606908X:17,394,069A/G—likely benign
rs907290988X:17,394,070C/T—likely benign
rs1473075796X:17,394,077G/C—likely benign
rs775588477X:17,394,084A/G—likely benign
rs2064343947X:17,394,086C/G—likely benign
rs398124605X:17,394,091C/T—likely benign
rs2064344076X:17,394,110C/G—likely benign
rs1240476811X:17,394,129G/T—likely benign
rs1167916295X:17,394,136G/A—uncertain significance
rs1026332275X:17,394,138A/G—benign
rs1451780266X:17,394,147C/T—likely benign
rs1341004065X:17,394,157G/T—pathogenic
rs1433853793X:17,394,161A/T—uncertain significance
rs886428017X:17,394,182A/C—uncertain significance
rs2519619963X:17,394,185C/T—uncertain significance
rs2064344909X:17,394,189G/T—likely benign
rs773995388X:17,394,202G/A—conflicting classifications of pathogenicity
rs1215813903X:17,394,212C/T—uncertain significance
rs1364463762X:17,394,219G/T—likely benign
rs764411401X:17,394,230C/T—uncertain significance
rs2064345537X:17,394,233T/C—uncertain significance
rs1601678491X:17,394,244C/T—likely benign
rs777054929X:17,394,246G/A—likely benign
rs2064345759X:17,394,255C/A—pathogenic
rs763390377X:17,394,268G/A—conflicting classifications of pathogenicity
rs794726962X:17,394,281G/A—uncertain significance
rs1555981412X:17,394,288C/T—likely benign
rs1206899413X:17,394,290G/C—uncertain significance
rs1007584631X:17,394,303C/G—uncertain significance
rs751886871X:17,394,304G/C—uncertain significance
rs1016293630X:17,394,327C/G—likely benign
rs2064346316X:17,394,332A/G—uncertain significance
rs2519620437X:17,394,346G/C—uncertain significance
rs745648326X:17,394,364C/T—uncertain significance
rs776930086X:17,394,370G/A—uncertain significance
rs1484691355X:17,394,382C/T—pathogenic
rs769860109X:17,394,383A/G—uncertain significance
rs398124610X:17,394,393C/T—conflicting classifications of pathogenicity
rs2519620516X:17,394,397G/A—uncertain significance
rs2064346850X:17,394,399C/T—conflicting classifications of pathogenicity
rs1569241599X:17,394,406C/G—uncertain significance
rs752118452X:17,394,408C/A—benign
rs759834255X:17,394,426C/G—uncertain significance
rs2064347078X:17,394,428C/G—uncertain significance
rs1555981433X:17,394,433C/T—pathogenic
rs993387923X:17,394,434A/G—uncertain significance
rs727504040X:17,394,446G/T—pathogenic
rs1064795101X:17,394,450G/A—pathogenic
rs794726960X:17,394,452A/C—uncertain significance
rs752298498X:17,394,462T/C—benign
rs2146987459X:17,605,733A/C—uncertain significance
rs7880750X:17,653,480C/A—benign
rs1569297716X:17,653,507A/G—uncertain significance
rs7884177X:17,653,599C/G—benign
rs143065064X:17,653,697C/T—likely benign
rs190130744X:17,653,780C/T—likely benign
rs113112459X:17,653,788G/T—likely benign
rs5955543X:17,698,397A/Gregulatory region variant—
rs17312492X:17,705,685A/G—likely benign
rs771305748X:17,705,850C/T—benign
rs760065199X:17,705,857T/C—benign
rs972522687X:17,705,863C/T—likely benign
rs1329366462X:17,705,893G/C—likely benign
rs2066172269X:17,705,897G/A—uncertain significance
rs780176861X:17,705,903T/C—uncertain significance
rs2519878045X:17,705,904A/G—uncertain significance
rs746772731X:17,705,906C/T—likely benign
rs140369750X:17,705,907G/A—uncertain significance
rs777799752X:17,705,908C/T—benign
rs866091099X:17,705,909G/A—uncertain significance
rs200952266X:17,705,914G/A—conflicting classifications of pathogenicity
rs150379955X:17,705,942C/G—likely benign
rs794727314X:17,705,956A/C—uncertain significance
rs138104885X:17,705,962C/T—likely benign
rs1176870677X:17,705,963G/A—benign
rs754663070X:17,705,983C/T—benign

Showing 100 of 445 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.