Annotation Detail
Information
- Associated Genes
- LAMB3
- Associated Variants
-
LAMB3 p.Glu210Lys (p.E210K)
(
ENST00000367030.7,
ENST00000391911.5,
ENST00000356082.9 )
LAMB3 p.Glu210Lys (p.E210K) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 ) - Associated Disease
- junctional epidermolysis bullosa
- Source Database
- DisGeNET
- Description
- E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
- Pubmed
- 9767254
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.136316306889811
- Year of publication
- 1998
Drugs