Annotation Detail
Information
- Associated Genes
- ACTG1
- Associated Variants
-
ACTG1 p.Arg256Trp (p.R256W)
(
ENST00000571721.6,
ENST00000575994.6,
ENST00000575842.5,
ENST00000571691.6,
ENST00000615544.5,
ENST00000575659.6,
ENST00000570382.2,
ENST00000679480.1,
ENST00000575087.5,
ENST00000681052.1,
ENST00000644774.2,
ENST00000573283.7 )
ACTG1 p.Arg256= (p.R256=) ( ENST00000644774.2, ENST00000573283.7, ENST00000681052.1, ENST00000570382.2, ENST00000615544.5, ENST00000575659.6, ENST00000575087.5, ENST00000679480.1, ENST00000571691.6, ENST00000575842.5, ENST00000575994.6, ENST00000571721.6 )
ACTG1 p.Arg254Trp (p.R254W) ( ENST00000681052.1, ENST00000644774.2, ENST00000573283.7, ENST00000679480.1, ENST00000575087.5, ENST00000615544.5, ENST00000575659.6, ENST00000570382.2, ENST00000571691.6, ENST00000575842.5, ENST00000571721.6, ENST00000575994.6 )
ACTG1 p.Arg254= (p.R254=) ( ENST00000681052.1, ENST00000644774.2, ENST00000573283.7, ENST00000615544.5, ENST00000575659.6, ENST00000570382.2, ENST00000679480.1, ENST00000575087.5, ENST00000575842.5, ENST00000571691.6, ENST00000571721.6, ENST00000575994.6 )
ACTG1 p.Thr203Lys (p.T203K) ( ENST00000575842.5, ENST00000571691.6, ENST00000575994.6, ENST00000571721.6, ENST00000644774.2, ENST00000573283.7, ENST00000681052.1, ENST00000575087.5, ENST00000679480.1, ENST00000570382.2, ENST00000615544.5, ENST00000575659.6 )
ACTG1 p.Phe200Ile (p.F200I) ( ENST00000679480.1, ENST00000575087.5, ENST00000615544.5, ENST00000575659.6, ENST00000570382.2, ENST00000681052.1, ENST00000644774.2, ENST00000573283.7, ENST00000571721.6, ENST00000575994.6, ENST00000575842.5, ENST00000571691.6 )
ACTG1 p.Ser155Phe (p.S155F) ( ENST00000679480.1, ENST00000575087.5, ENST00000575659.6, ENST00000615544.5, ENST00000570382.2, ENST00000681052.1, ENST00000573283.7, ENST00000644774.2, ENST00000571721.6, ENST00000575994.6, ENST00000575842.5, ENST00000571691.6 )
ACTG1 p.Ala135Val (p.A135V) ( ENST00000570382.2, ENST00000575659.6, ENST00000615544.5, ENST00000575087.5, ENST00000679480.1, ENST00000573283.7, ENST00000644774.2, ENST00000681052.1, ENST00000575994.6, ENST00000571721.6, ENST00000575842.5, ENST00000571691.6 )
ACTG1 p.Thr120Ile (p.T120I) ( ENST00000575994.6, ENST00000571721.6, ENST00000575842.5, ENST00000571691.6, ENST00000570382.2, ENST00000575659.6, ENST00000615544.5, ENST00000575087.5, ENST00000679480.1, ENST00000573283.7, ENST00000644774.2, ENST00000681052.1 )
ACTG1 p.Arg256Trp (p.R256W) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 )
ACTG1 p.Arg256= (p.R256=) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 )
ACTG1 p.Arg254Trp (p.R254W) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 )
ACTG1 p.Arg254= (p.R254=) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 )
ACTG1 p.Thr203Lys (p.T203K) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 )
ACTG1 p.Phe200Ile (p.F200I) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 )
ACTG1 p.Ser155Phe (p.S155F) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 )
ACTG1 p.Ala135Val (p.A135V) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 )
ACTG1 p.Thr120Ile (p.T120I) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 ) - Associated Disease
- Baraitser-Winter syndrome 2
- 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