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
- Atrophic condition of skin
- Source Database
- DisGeNET
- Description
- As the third patient is a young child with fewer features of this subtype to date, identification of E210K in combination with a nonsense LAMB3 mutation may be predictive of the subsequent development of a generalized atrophic benign EB phenotype both in this child and in other junctional EB patients with the E210K mutation.
- Pubmed
- 9767254
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 1998
Drugs