Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Leu283Pro (p.L283P)
(
ENST00000298854.7,
ENST00000529341.1,
ENST00000352508.7,
ENST00000524487.5 )
RAPSN p.Ala246Val (p.A246V) ( ENST00000298854.7, ENST00000524487.5, ENST00000352508.7, ENST00000529341.1 )
RAPSN p.Asn88Lys (p.N88K) ( ENST00000298854.7, ENST00000529341.1, ENST00000352508.7, ENST00000524487.5 )
RAPSN p.Leu283Pro (p.L283P) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Ala246Val (p.A246V) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 )
RAPSN p.Asn88Lys (p.N88K) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 ) - Associated Disease
- MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs