Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Gln386Ter (p.Q386*)
(
ENST00000369519.4 )
RBM20 p.Ile536Thr (p.I536T) ( ENST00000369519.4 )
RBM20 p.Arg623Trp (p.R623W) ( 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.Ser637Asn (p.S637N) ( ENST00000369519.4 )
RBM20 p.Pro638Leu (p.P638L) ( ENST00000369519.4 )
RBM20 p.Thr653Ile (p.T653I) ( ENST00000369519.4 )
RBM20 p.Gln386Ter (p.Q386*) ( ENST00000369519.4 )
RBM20 p.Ile536Thr (p.I536T) ( ENST00000369519.4 )
RBM20 p.Arg623Trp (p.R623W) ( 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.Ser637Asn (p.S637N) ( ENST00000369519.4 )
RBM20 p.Pro638Leu (p.P638L) ( ENST00000369519.4 )
RBM20 p.Thr653Ile (p.T653I) ( ENST00000369519.4 ) - Associated Disease
- Cardiomyopathies
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- NA
Drugs