NF1

neurofibromin 1

Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants7,555 total

rsidPosition (GRCh37)AllelesClassClinVar
rs191149867317:29,421,965T/C—uncertain significance
rs88605278517:29,422,006G/A—uncertain significance
rs254450945917:29,422,048C/T—uncertain significance
rs214313937417:29,422,055A/G—pathogenic
rs191151039317:29,422,056G/C—pathogenic
rs191151147317:29,422,063G/C—uncertain significance
rs146314681417:29,422,077C/T—uncertain significance
rs87896725517:29,422,091C/T—uncertain significance
rs88605278917:29,422,099C/G—uncertain significance
rs88605279017:29,422,119C/A—uncertain significance
rs88605279117:29,422,155C/G—uncertain significance
rs191152624117:29,422,162T/C—uncertain significance
rs88605279217:29,422,180C/A—uncertain significance
rs88605279317:29,422,213T/C—uncertain significance
rs88605279417:29,422,244C/T—uncertain significance
rs88605279517:29,422,255G/T—uncertain significance
rs96422336017:29,422,277C/T—uncertain significance
rs55682329617:29,422,306G/C—likely benign
rs98183293417:29,422,310C/G—likely benign
rs86462233117:29,422,320G/A—uncertain significance
rs191154890717:29,422,324G/A—uncertain significance
rs87665934217:29,422,326A/T—uncertain significance
rs106050025217:29,422,328A/Cmissense variantpathogenic
rs88604134617:29,422,329T/Amissense variantpathogenic
rs159817373717:29,422,330G/A—pathogenic
rs214314423217:29,422,331G/T—uncertain significance
rs155559447317:29,422,332C/T—uncertain significance
rs87666012817:29,422,333C/T—likely benign
rs159817377017:29,422,334G/A—uncertain significance
rs191155082117:29,422,335C/T—uncertain significance
rs214314445217:29,422,336G/A—likely benign
rs191155106017:29,422,337C/A—uncertain significance
rs214314455317:29,422,339C/T—likely benign
rs159817377517:29,422,340A/T—uncertain significance
rs214314462117:29,422,341G/C—uncertain significance
rs156778680417:29,422,342G/T—uncertain significance
rs156778681217:29,422,343C/T—uncertain significance
rs86462221017:29,422,344C/T—conflicting classifications of pathogenicity
rs214314477117:29,422,345G/T—likely benign
rs191155227817:29,422,346G/A—uncertain significance
rs119367179517:29,422,351A/G—likely benign
rs191155293117:29,422,352T/C—uncertain significance
rs156778682917:29,422,353G/A—pathogenic
rs214314497117:29,422,354G/A—pathogenic
rs254451129117:29,422,355G/A—uncertain significance
rs214314501417:29,422,356T/G—uncertain significance
rs103334800817:29,422,357C/G—conflicting classifications of pathogenicity
rs87665865817:29,422,358C/Tstop gainedpathogenic
rs214314509517:29,422,359A/G—uncertain significance
rs143111264517:29,422,360G/C—uncertain significance
rs254451136517:29,422,361G/A—uncertain significance
rs191155496417:29,422,362C/T—conflicting classifications of pathogenicity
rs78620386617:29,422,363C/T—likely benign
rs106050026117:29,422,364G/A—uncertain significance
rs191155606117:29,422,365T/C—conflicting classifications of pathogenicity
rs254451142417:29,422,366G/T—likely benign
rs214314530617:29,422,367G/T—uncertain significance
rs214314533217:29,422,368T/C—uncertain significance
rs75541379917:29,422,369C/A—likely benign
rs159817385217:29,422,371G/A—uncertain significance
rs214314543217:29,422,372C/T—likely benign
rs105752033417:29,422,373C/T—uncertain significance
rs155559449317:29,422,374G/C—uncertain significance
rs131532716317:29,422,375C/T—conflicting classifications of pathogenicity
rs191155743317:29,422,377T/G—uncertain significance
rs136929098817:29,422,378C/G—uncertain significance
rs214314563617:29,422,380A/G—uncertain significance
rs159817388217:29,422,381C/T—likely benign
rs78620330717:29,422,382G/Tstop gainedpathogenic
rs191155860217:29,422,383A/C—uncertain significance
rs156778690517:29,422,385C/T—pathogenic
rs159817390117:29,422,386A/C—conflicting classifications of pathogenicity
rs191155978717:29,422,387G/C—likely pathogenic
rs155559450017:29,422,388G/T—pathogenic
rs214314594817:29,422,389T/C—pathogenic
rs159817391017:29,422,390A/T—uncertain significance
rs191156077417:29,422,391A/G—conflicting classifications of pathogenicity
rs87941306217:29,422,392C/T—uncertain significance
rs77926026417:29,422,393C/T—uncertain significance
rs106050389517:29,422,394G/C—likely benign
rs159817393417:29,422,395G/C—likely benign
rs146016489417:29,422,396C/T—likely benign
rs137572510217:29,422,397C/G—likely benign
rs56551587717:29,422,398C/T—likely benign
rs130062393817:29,422,399G/A—likely benign
rs214314637217:29,422,400T/G—likely benign
rs75693009917:29,422,402G/A—likely benign
rs78067411217:29,422,403C/A—benign
rs214314649117:29,422,404G/A—likely benign
rs159817397517:29,422,405G/A—likely benign
rs116959178817:29,422,406G/C—likely benign
rs53262843117:29,422,407C/T—likely benign
rs76917437617:29,422,409G/A—likely benign
rs55076717517:29,422,410G/C—likely benign
rs74918500917:29,422,422G/A—likely benign
rs1787882417:29,422,604C/T—likely benign
rs1788015517:29,431,257T/C—likely benign
rs989906317:29,431,407G/A—benign
rs200128717:29,432,775T/Gintron variant—
rs479557417:29,446,709G/Aintron variant—

Showing 100 of 7,555 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.