Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Ile119SerfsTer7 (p.I119Sfs*7)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Ser192AlafsTer65 (p.S192Afs*65) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Leu262ArgfsTer4 (p.L262Rfs*4) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu474GlufsTer20 (p.L474Efs*20) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg610del (p.R610del) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Ile119SerfsTer7 (p.I119Sfs*7) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ser192AlafsTer65 (p.S192Afs*65) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu262ArgfsTer4 (p.L262Rfs*4) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu474GlufsTer20 (p.L474Efs*20) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg610del (p.R610del) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Cys159Arg (p.C159R) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Gly244Arg (p.G244R) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Asp253His (p.D253H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gln294Lys (p.Q294K) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu304Pro (p.L304P) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 c.1092-1G>C ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Asn385Ser (p.N385S) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.His423Tyr (p.H423Y) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Cys433Trp (p.C433W) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Ser438Arg (p.S438R) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg443Gly (p.R443G) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg443Ter (p.R443*) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg476Trp (p.R476W) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg498Cys (p.R498C) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg498His (p.R498H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498Leu (p.R498L) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg542Ter (p.R542*) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Cys159Arg (p.C159R) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gly244Arg (p.G244R) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Asp253His (p.D253H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gln294Lys (p.Q294K) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu304Pro (p.L304P) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 c.1092-1G>C ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Asn385Ser (p.N385S) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.His423Tyr (p.H423Y) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Cys433Trp (p.C433W) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ser438Arg (p.S438R) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg443Gly (p.R443G) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg443Ter (p.R443*) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg476Trp (p.R476W) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498Cys (p.R498C) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498His (p.R498H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498Leu (p.R498L) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg542Ter (p.R542*) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Pro187AlafsTer6 (p.P187Afs*6)
SMPD1 p.Pro187AlafsTer6 (p.P187Afs*6)
SMPD1 p.His284ProfsTer18 (p.H284Pfs*18)
SMPD1 p.Pro187AlafsTer6 (p.P187Afs*6)
SMPD1 p.Pro187AlafsTer6 (p.P187Afs*6)
SMPD1 p.His284ProfsTer18 (p.H284Pfs*18) - Associated Disease
- Niemann-Pick disease, type B
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56516732709119
- Year of publication
- NA
Drugs