Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Leu180AlafsTer12 (p.L180Afs*12)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Phe333SerfsTer52 (p.F333Sfs*52) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Leu371PhefsTer19 (p.L371Ffs*19) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu180AlafsTer12 (p.L180Afs*12) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Phe333SerfsTer52 (p.F333Sfs*52) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu371PhefsTer19 (p.L371Ffs*19) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Trp32Ter (p.W32*) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Cys159Arg (p.C159R) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Gly247Ser (p.G247S) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Asp253His (p.D253H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu263Ter (p.L263*) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gln294Lys (p.Q294K) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu304Pro (p.L304P) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Met384Ile (p.M384I) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg443Gly (p.R443G) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg443Ter (p.R443*) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Tyr469Ser (p.Y469S) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg476Trp (p.R476W) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Pro477Leu (p.P477L) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Ala484Glu (p.A484E) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ala484Val (p.A484V) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498His (p.R498H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498Leu (p.R498L) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gly579Ser (p.G579S) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg602His (p.R602H) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Trp32Ter (p.W32*) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Cys159Arg (p.C159R) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gly247Ser (p.G247S) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Asp253His (p.D253H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu263Ter (p.L263*) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gln294Lys (p.Q294K) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu304Pro (p.L304P) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Met384Ile (p.M384I) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg443Gly (p.R443G) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg443Ter (p.R443*) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Tyr469Ser (p.Y469S) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg476Trp (p.R476W) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Pro477Leu (p.P477L) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ala484Glu (p.A484E) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ala484Val (p.A484V) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498His (p.R498H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498Leu (p.R498L) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gly579Ser (p.G579S) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg602His (p.R602H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ser174LeufsTer19 (p.S174Lfs*19)
SMPD1 p.Pro187AlafsTer6 (p.P187Afs*6)
SMPD1 p.Pro187AlafsTer6 (p.P187Afs*6)
SMPD1 p.Ser174LeufsTer19 (p.S174Lfs*19)
SMPD1 p.Pro187AlafsTer6 (p.P187Afs*6)
SMPD1 p.Pro187AlafsTer6 (p.P187Afs*6) - Associated Disease
- Niemann-Pick disease, type A
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.562171534976642
- Year of publication
- NA
Drugs