Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gly2043Arg (p.G2043R)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gly2043Arg (p.G2043R) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- Cockayne-Touraine Disease
- Source Database
- DisGeNET
- Description
- A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
- Pubmed
- 9892921
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00570027931368637
- Year of publication
- 1998
Drugs