Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gly2034Arg (p.G2034R)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gly2034Arg (p.G2034R) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- Epidermolysis bullosa pruriginosa
- Source Database
- DisGeNET
- Description
- Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa.
- Pubmed
- 25113066
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.362985860592883
- Year of publication
- 2014
Drugs