Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 p.Pro286LeufsTer15 (p.P286Lfs*15)
(
ENST00000361866.8 )
COL6A1 p.Ala489ProfsTer16 (p.A489Pfs*16) ( ENST00000361866.8 )
COL6A1 p.Pro286LeufsTer15 (p.P286Lfs*15) ( ENST00000361866.8 )
COL6A1 p.Ala489ProfsTer16 (p.A489Pfs*16) ( ENST00000361866.8 )
COL6A1 p.Lys121Arg (p.K121R) ( ENST00000361866.8 )
COL6A1 c.805-2A>G ( ENST00000361866.8 )
COL6A1 p.Gly281Arg (p.G281R) ( 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 p.Gly302Arg (p.G302R) ( ENST00000361866.8 )
COL6A1 c.957+2T>C ( ENST00000361866.8 )
COL6A1 c.1056+1G>A ( ENST00000361866.8 )
COL6A1 p.Tyr659Ter (p.Y659*) ( ENST00000361866.8 )
COL6A1 p.Tyr659= (p.Y659=) ( ENST00000361866.8 )
COL6A1 p.Lys121Arg (p.K121R) ( ENST00000361866.8 )
COL6A1 c.805-2A>G ( ENST00000361866.8 )
COL6A1 p.Gly281Arg (p.G281R) ( 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 p.Gly302Arg (p.G302R) ( ENST00000361866.8 )
COL6A1 c.957+2T>C ( ENST00000361866.8 )
COL6A1 c.1056+1G>A ( ENST00000361866.8 )
COL6A1 p.Tyr659Ter (p.Y659*) ( ENST00000361866.8 )
COL6A1 p.Tyr659= (p.Y659=) ( ENST00000361866.8 ) - Associated Disease
- Scleroatonic muscular dystrophy
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.368067311292288
- Year of publication
- NA
Drugs