Annotation Detail
Information
- Associated Genes
- RNF216
- Associated Variants
-
RNF216 p.Glu205AspfsTer16 (p.E205Dfs*16)
(
ENST00000389902.8,
ENST00000425013.6 )
RNF216 p.Glu205AspfsTer16 (p.E205Dfs*16) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Arg751Cys (p.R751C) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Cys597Ter (p.C597*) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Tyr539Phe (p.Y539F) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Tyr539Cys (p.Y539C) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Gly456Glu (p.G456E) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Gln302Glu (p.Q302E) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Arg751Cys (p.R751C) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Cys597Ter (p.C597*) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Tyr539Phe (p.Y539F) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Tyr539Cys (p.Y539C) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Gly456Glu (p.G456E) ( ENST00000389902.8, ENST00000425013.6 )
RNF216 p.Gln302Glu (p.Q302E) ( ENST00000389902.8, ENST00000425013.6 ) - Associated Disease
- Cerebellar Ataxia and Hypogonadotropic Hypogonadism
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.240542883744161
- Year of publication
- NA
Drugs