Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Phe333SerfsTer52 (p.F333Sfs*52)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Arg610del (p.R610del) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Phe333SerfsTer52 (p.F333Sfs*52) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg610del (p.R610del) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu139Pro (p.L139P) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ala198Pro (p.A198P) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Gln292Lys (p.Q292K) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu304Pro (p.L304P) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Ala359Asp (p.A359D) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.His423Tyr (p.H423Y) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg476Trp (p.R476W) ( ENST00000527275.5, ENST00000342245.9 )
SMPD1 p.Arg498His (p.R498H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498Leu (p.R498L) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Lys578= (p.K578=) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu139Pro (p.L139P) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ala198Pro (p.A198P) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gln292Lys (p.Q292K) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Leu304Pro (p.L304P) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Ala359Asp (p.A359D) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.His423Tyr (p.H423Y) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg476Trp (p.R476W) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498His (p.R498H) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Arg498Leu (p.R498L) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Lys578= (p.K578=) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick Diseases
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.266098145806366
- Year of publication
- NA
Drugs