Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Leu283Pro (p.L283P)
(
ENST00000298854.7,
ENST00000529341.1,
ENST00000352508.7,
ENST00000524487.5 )
RAPSN p.Tyr269= (p.Y269=) ( ENST00000524487.5, ENST00000352508.7, ENST00000529341.1, ENST00000298854.7 )
RAPSN p.Tyr269Ter (p.Y269*) ( ENST00000524487.5, ENST00000298854.7, ENST00000352508.7, ENST00000529341.1 )
RAPSN p.Arg164Cys (p.R164C) ( ENST00000524487.5, ENST00000298854.7, ENST00000529341.1, ENST00000352508.7 )
RAPSN p.Glu162Lys (p.E162K) ( ENST00000524487.5, ENST00000298854.7, ENST00000529341.1, ENST00000352508.7 )
RAPSN p.Asn88Lys (p.N88K) ( ENST00000298854.7, ENST00000529341.1, ENST00000352508.7, ENST00000524487.5 )
RAPSN c.193-15C>T ( ENST00000524487.5, ENST00000529341.1, ENST00000352508.7, ENST00000298854.7 )
RAPSN p.Val45Leu (p.V45L) ( ENST00000352508.7, ENST00000529341.1, ENST00000298854.7, ENST00000524487.5 )
RAPSN p.Val45Met (p.V45M) ( ENST00000298854.7, ENST00000529341.1, ENST00000524487.5, ENST00000352508.7 )
RAPSN p.Leu14Pro (p.L14P) ( ENST00000352508.7, ENST00000529341.1, ENST00000298854.7, ENST00000524487.5 )
RAPSN c.-210A>G
RAPSN p.Leu283Pro (p.L283P) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Tyr269= (p.Y269=) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Tyr269Ter (p.Y269*) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Arg164Cys (p.R164C) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Glu162Lys (p.E162K) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Asn88Lys (p.N88K) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN c.193-15C>T ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Val45Leu (p.V45L) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Val45Met (p.V45M) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Leu14Pro (p.L14P) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN c.-210A>G
RAPSN p.Cys363SerfsTer9 (p.C363Sfs*9)
RAPSN p.Phe185LeufsTer20 (p.F185Lfs*20)
RAPSN p.Cys363SerfsTer9 (p.C363Sfs*9)
RAPSN p.Phe185LeufsTer20 (p.F185Lfs*20) - Associated Disease
- MYASTHENIC SYNDROME, CONGENITAL, Ie
- 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