Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Cys167GlnfsTer10 (p.C167Qfs*10)
(
ENST00000487476.5,
ENST00000356175.7,
ENST00000691014.1,
ENST00000696138.1,
ENST00000490416.2,
ENST00000431387.8,
ENST00000358273.9 )
NF1 p.Gln514ArgfsTer43 (p.Q514Rfs*43) ( ENST00000487476.5, ENST00000431387.8, ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Thr586ValfsTer18 (p.T586Vfs*18) ( ENST00000358273.9, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Ser727GlnfsTer21 (p.S727Qfs*21) ( ENST00000356175.7, ENST00000691014.1, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Leu1153MetfsTer4 (p.L1153Mfs*4) ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ala2174ProfsTer20 (p.A2174Pfs*20) ( ENST00000684826.1, ENST00000693617.1, ENST00000358273.9, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7, ENST00000687027.1 )
NF1 p.Lys2307del (p.K2307del) ( ENST00000684826.1, ENST00000696138.1, ENST00000693617.1, ENST00000358273.9, ENST00000687027.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Asp2465IlefsTer24 (p.D2465Ifs*24) ( ENST00000684826.1, ENST00000696138.1, ENST00000358273.9, ENST00000693617.1, ENST00000687027.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Cys167GlnfsTer10 (p.C167Qfs*10) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gln514ArgfsTer43 (p.Q514Rfs*43) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Thr586ValfsTer18 (p.T586Vfs*18) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ser727GlnfsTer21 (p.S727Qfs*21) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1153MetfsTer4 (p.L1153Mfs*4) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ala2174ProfsTer20 (p.A2174Pfs*20) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Lys2307del (p.K2307del) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Asp2465IlefsTer24 (p.D2465Ifs*24) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Glu19Ter (p.E19*) ( ENST00000696138.1, ENST00000358273.9, ENST00000691014.1, ENST00000356175.7, ENST00000431387.8, ENST00000487476.5 )
NF1 p.Gln209Ter (p.Q209*) ( ENST00000490416.2, ENST00000487476.5, ENST00000696138.1, ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000691014.1 )
NF1 p.Tyr235Ter (p.Y235*) ( ENST00000358273.9, ENST00000691014.1, ENST00000696138.1, ENST00000356175.7, ENST00000490416.2, ENST00000431387.8, ENST00000487476.5 )
NF1 p.Tyr235= (p.Y235=) ( ENST00000696138.1, ENST00000358273.9, ENST00000691014.1, ENST00000356175.7, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2 )
NF1 c.889-1G>T ( ENST00000691014.1, ENST00000356175.7, ENST00000487476.5, ENST00000431387.8, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Arg304Ter (p.R304*) ( ENST00000431387.8, ENST00000358273.9, ENST00000487476.5, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gly629Arg (p.G629R) ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 c.2252-1G>C ( ENST00000691014.1, ENST00000356175.7, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Leu763Pro (p.L763P) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Leu763Arg (p.L763R) ( ENST00000356175.7, ENST00000691014.1, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Trp837Arg (p.W837R) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Tyr863Ter (p.Y863*) ( ENST00000356175.7, ENST00000691014.1, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Leu898Pro (p.L898P) ( ENST00000696138.1, ENST00000358273.9, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Gln1070Ter (p.Q1070*) ( ENST00000696138.1, ENST00000358273.9, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Arg1241Ter (p.R1241*) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Arg1870Gln (p.R1870Q) ( ENST00000358273.9, ENST00000356175.7, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Glu1928Ter (p.E1928*) ( ENST00000356175.7, ENST00000691014.1, ENST00000687027.1, ENST00000684826.1, ENST00000693617.1, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Glu1947Ter (p.E1947*) ( ENST00000684826.1, ENST00000696138.1, ENST00000358273.9, ENST00000693617.1, ENST00000687027.1, ENST00000356175.7, ENST00000691014.1 )
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.Arg2450Ter (p.R2450*) ( 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.Gln2699Ter (p.Q2699*) ( ENST00000684826.1, ENST00000693617.1, ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1, ENST00000687027.1 )
NF1 p.Glu19Ter (p.E19*) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gln209Ter (p.Q209*) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Tyr235Ter (p.Y235*) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Tyr235= (p.Y235=) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
NF1 c.889-1G>T ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg304Ter (p.R304*) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gly629Arg (p.G629R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 c.2252-1G>C ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu763Pro (p.L763P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu763Arg (p.L763R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Trp837Arg (p.W837R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Tyr863Ter (p.Y863*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu898Pro (p.L898P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gln1070Ter (p.Q1070*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1241Ter (p.R1241*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1870Gln (p.R1870Q) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Glu1928Ter (p.E1928*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Glu1947Ter (p.E1947*) ( 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.Arg2450Ter (p.R2450*) ( 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.Gln2699Ter (p.Q2699*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Ile679AspfsTer21 (p.I679Dfs*21)
NF1 p.Ser876PhefsTer30 (p.S876Ffs*30)
NF1 p.Phe1275LeufsTer9 (p.F1275Lfs*9)
NF1 p.Asp1302IlefsTer16 (p.D1302Ifs*16)
NF1 p.Tyr1634_Tyr1635insTer (p.Y1634_Y1635ins*)
NF1 p.Ile679AspfsTer21 (p.I679Dfs*21)
NF1 p.Ser876PhefsTer30 (p.S876Ffs*30)
NF1 p.Phe1275LeufsTer9 (p.F1275Lfs*9)
NF1 p.Asp1302IlefsTer16 (p.D1302Ifs*16)
NF1 p.Tyr1634_Tyr1635insTer (p.Y1634_Y1635ins*) - Associated Disease
- Neoplastic Syndromes, Hereditary
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs