Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Arg634Gln (p.R634Q)
(
ENST00000369519.4 )
RBM20 p.Arg636Ser (p.R636S) ( ENST00000369519.4 )
RBM20 p.Arg636Cys (p.R636C) ( ENST00000369519.4 )
RBM20 p.Arg636His (p.R636H) ( ENST00000369519.4 )
RBM20 p.Ser637Gly (p.S637G) ( ENST00000369519.4 )
RBM20 p.Pro638Leu (p.P638L) ( ENST00000369519.4 )
RBM20 p.Glu916Lys (p.E916K) ( ENST00000369519.4 )
RBM20 p.Arg634Gln (p.R634Q) ( ENST00000369519.4 )
RBM20 p.Arg636Ser (p.R636S) ( ENST00000369519.4 )
RBM20 p.Arg636Cys (p.R636C) ( ENST00000369519.4 )
RBM20 p.Arg636His (p.R636H) ( ENST00000369519.4 )
RBM20 p.Ser637Gly (p.S637G) ( ENST00000369519.4 )
RBM20 p.Pro638Leu (p.P638L) ( ENST00000369519.4 )
RBM20 p.Glu916Lys (p.E916K) ( ENST00000369519.4 ) - Associated Disease
- Cardiomyopathy, Dilated, 1DD
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs