Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 p.Gly284Arg (p.G284R)
(
ENST00000361866.8 )
COL6A1 p.Gly290Arg (p.G290R) ( ENST00000361866.8 )
COL6A1 p.Gly290Arg (p.G290R) ( ENST00000361866.8 )
COL6A1 p.Gly284Arg (p.G284R) ( ENST00000361866.8 )
COL6A1 p.Gly290Arg (p.G290R) ( ENST00000361866.8 )
COL6A1 p.Gly290Arg (p.G290R) ( ENST00000361866.8 ) - Associated Disease
- Congenital muscular dystrophy (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs