Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 p.Lys121Arg (p.K121R)
(
ENST00000361866.8 )
COL6A1 c.805-2A>G ( ENST00000361866.8 )
COL6A1 p.Pro274Leu (p.P274L) ( ENST00000361866.8 )
COL6A1 p.Gly284Arg (p.G284R) ( ENST00000361866.8 )
COL6A1 p.Gly290Arg (p.G290R) ( ENST00000361866.8 )
COL6A1 p.Gly290Arg (p.G290R) ( ENST00000361866.8 )
COL6A1 p.Gly293Arg (p.G293R) ( ENST00000361866.8 )
COL6A1 p.Gly299Glu (p.G299E) ( ENST00000361866.8 )
COL6A1 c.957+2T>C ( ENST00000361866.8 )
COL6A1 p.Gly341Asp (p.G341D) ( ENST00000361866.8 )
COL6A1 c.1056+1G>A ( ENST00000361866.8 )
COL6A1 c.1056+2T>C ( ENST00000361866.8 )
COL6A1 p.Gly526Val (p.G526V) ( ENST00000361866.8 )
COL6A1 p.Lys121Arg (p.K121R) ( ENST00000361866.8 )
COL6A1 c.805-2A>G ( ENST00000361866.8 )
COL6A1 p.Pro274Leu (p.P274L) ( ENST00000361866.8 )
COL6A1 p.Gly284Arg (p.G284R) ( ENST00000361866.8 )
COL6A1 p.Gly290Arg (p.G290R) ( ENST00000361866.8 )
COL6A1 p.Gly290Arg (p.G290R) ( ENST00000361866.8 )
COL6A1 p.Gly293Arg (p.G293R) ( ENST00000361866.8 )
COL6A1 p.Gly299Glu (p.G299E) ( ENST00000361866.8 )
COL6A1 c.957+2T>C ( ENST00000361866.8 )
COL6A1 p.Gly341Asp (p.G341D) ( ENST00000361866.8 )
COL6A1 c.1056+1G>A ( ENST00000361866.8 )
COL6A1 c.1056+2T>C ( ENST00000361866.8 )
COL6A1 p.Gly526Val (p.G526V) ( ENST00000361866.8 ) - Associated Disease
- Bethlem myopathy
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.564343069953285
- Year of publication
- NA
Drugs