Annotation Detail

Information
Associated Genes
NF1
Associated Variants
NF1 p.Gln514ArgfsTer43 (p.Q514Rfs*43) ( ENST00000487476.5, ENST00000431387.8, ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Glu595AsnfsTer14 (p.E595Nfs*14) ( ENST00000696138.1, ENST00000358273.9, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Glu767ProfsTer22 (p.E767Pfs*22) ( ENST00000358273.9, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Met992del (p.M992del) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1153MetfsTer4 (p.L1153Mfs*4) ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gln514ArgfsTer43 (p.Q514Rfs*43) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Glu595AsnfsTer14 (p.E595Nfs*14) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Glu767ProfsTer22 (p.E767Pfs*22) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Met992del (p.M992del) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1153MetfsTer4 (p.L1153Mfs*4) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg192Ter (p.R192*) ( ENST00000490416.2, ENST00000487476.5, ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu357Pro (p.L357P) ( ENST00000696138.1, ENST00000358273.9, ENST00000487476.5, ENST00000431387.8, ENST00000691014.1, ENST00000356175.7 )
NF1 c.1260+1G>A ( ENST00000691014.1, ENST00000356175.7, ENST00000487476.5, ENST00000431387.8, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Tyr489Cys (p.Y489C) ( ENST00000431387.8, ENST00000356175.7, ENST00000358273.9, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu508Pro (p.L508P) ( ENST00000356175.7, ENST00000691014.1, ENST00000431387.8, ENST00000487476.5, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Leu532Pro (p.L532P) ( ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000356175.7, ENST00000696138.1, ENST00000358273.9 )
NF1 c.1642-8A>G ( ENST00000696138.1, ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000431387.8 )
NF1 p.Arg681Ter (p.R681*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu844Pro (p.L844P) ( ENST00000358273.9, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Leu844Arg (p.L844R) ( ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Met1035Arg (p.M1035R) ( ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1 )
NF1 c.3113+1G>A ( ENST00000696138.1, ENST00000356175.7, ENST00000358273.9, ENST00000691014.1 )
NF1 c.3113+1G>T ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ile1165Lys (p.I1165K) ( ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Leu1167Ter (p.L1167*) ( ENST00000356175.7, ENST00000696138.1, ENST00000691014.1, ENST00000358273.9 )
NF1 p.Arg1241Ter (p.R1241*) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Leu1243Pro (p.L1243P) ( ENST00000356175.7, ENST00000691014.1, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Arg1276Gln (p.R1276Q) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1276Pro (p.R1276P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gln1341Ter (p.Q1341*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1362Ter (p.R1362*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1411Phe (p.L1411F) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Arg1412Ser (p.R1412S) ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Lys1444Glu (p.K1444E) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 c.4332+2T>C ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gln1447Arg (p.Q1447R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Glu1516Gln (p.E1516Q) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Glu1516Ter (p.E1516*) ( ENST00000356175.7, ENST00000691014.1, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Arg1830Ser (p.R1830S) ( ENST00000687027.1, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1, ENST00000358273.9, ENST00000693617.1, ENST00000684826.1 )
NF1 p.Arg1830Gly (p.R1830G) ( ENST00000684826.1, ENST00000693617.1, ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1, ENST00000687027.1 )
NF1 p.Arg1830Cys (p.R1830C) ( ENST00000358273.9, ENST00000356175.7, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg1830His (p.R1830H) ( ENST00000684826.1, ENST00000696138.1, ENST00000693617.1, ENST00000358273.9, ENST00000687027.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Arg1830Pro (p.R1830P) ( ENST00000684826.1, ENST00000696138.1, ENST00000358273.9, ENST00000693617.1, ENST00000687027.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Arg1830Leu (p.R1830L) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Glu1925Ter (p.E1925*) ( ENST00000687027.1, ENST00000356175.7, ENST00000691014.1, ENST00000684826.1, ENST00000696138.1, ENST00000693617.1, ENST00000358273.9 )
NF1 p.Leu1953Pro (p.L1953P) ( ENST00000684826.1, ENST00000358273.9, ENST00000693617.1, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1, ENST00000687027.1 )
NF1 p.Arg1968Ter (p.R1968*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg1970Ter (p.R1970*) ( ENST00000684826.1, ENST00000358273.9, ENST00000693617.1, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7, ENST00000687027.1 )
NF1 c.6007-5A>G ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Leu2164Met (p.L2164M) ( ENST00000696138.1, ENST00000693617.1, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Tyr2192Asn (p.Y2192N) ( ENST00000687027.1, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1, ENST00000693617.1, ENST00000358273.9, ENST00000684826.1 )
NF1 p.Tyr2285Ter (p.Y2285*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Tyr2285Ter (p.Y2285*) ( ENST00000358273.9, ENST00000356175.7, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg2637Ter (p.R2637*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg192Ter (p.R192*) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu357Pro (p.L357P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 c.1260+1G>A ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Tyr489Cys (p.Y489C) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu508Pro (p.L508P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu532Pro (p.L532P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 c.1642-8A>G ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg681Ter (p.R681*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu844Pro (p.L844P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu844Arg (p.L844R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Met1035Arg (p.M1035R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 c.3113+1G>A ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 c.3113+1G>T ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ile1165Lys (p.I1165K) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1167Ter (p.L1167*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1241Ter (p.R1241*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1243Pro (p.L1243P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1276Gln (p.R1276Q) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1276Pro (p.R1276P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gln1341Ter (p.Q1341*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1362Ter (p.R1362*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1411Phe (p.L1411F) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1412Ser (p.R1412S) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Lys1444Glu (p.K1444E) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 c.4332+2T>C ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gln1447Arg (p.Q1447R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Glu1516Gln (p.E1516Q) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Glu1516Ter (p.E1516*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1830Ser (p.R1830S) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg1830Gly (p.R1830G) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg1830Cys (p.R1830C) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg1830His (p.R1830H) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg1830Pro (p.R1830P) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg1830Leu (p.R1830L) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Glu1925Ter (p.E1925*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Leu1953Pro (p.L1953P) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg1968Ter (p.R1968*) ( ENST00000691014.1, ENST00000693617.1, ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000696138.1 )
NF1 p.Arg1970Ter (p.R1970*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 c.6007-5A>G ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Leu2164Met (p.L2164M) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Tyr2192Asn (p.Y2192N) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Tyr2285Ter (p.Y2285*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Tyr2285Ter (p.Y2285*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Arg2637Ter (p.R2637*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Tyr580LeufsTer8 (p.Y580Lfs*8)
NF1 p.Ile1824TyrfsTer38 (p.I1824Yfs*38)
NF1 p.Ser1838LeufsTer24 (p.S1838Lfs*24)
NF1 p.Thr1843IlefsTer19 (p.T1843Ifs*19)
NF1 p.Tyr580LeufsTer8 (p.Y580Lfs*8)
NF1 p.Ile1824TyrfsTer38 (p.I1824Yfs*38)
NF1 p.Ser1838LeufsTer24 (p.S1838Lfs*24)
NF1 p.Thr1843IlefsTer19 (p.T1843Ifs*19)
Associated Disease
neurofibromatosis 1
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.670236158889378
Year of publication
NA
Drugs