Annotation Detail
Information
- Associated Genes
- LAMB3
- Associated Variants
-
LAMB3 p.Pro480ArgfsTer54 (p.P480Rfs*54)
(
ENST00000391911.5,
ENST00000356082.9,
ENST00000367030.7 )
LAMB3 p.Trp302GlyfsTer94 (p.W302Gfs*94) ( ENST00000356082.9, ENST00000391911.5, ENST00000367030.7 )
LAMB3 p.Pro480ArgfsTer54 (p.P480Rfs*54) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 )
LAMB3 p.Trp302GlyfsTer94 (p.W302Gfs*94) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 )
LAMB3 p.Arg635Ter (p.R635*) ( ENST00000367030.7, ENST00000356082.9, ENST00000391911.5 )
LAMB3 c.629-1G>A ( ENST00000356082.9, ENST00000391911.5, ENST00000367030.7 )
LAMB3 c.628+42G>A ( ENST00000367030.7, ENST00000391911.5, ENST00000356082.9 )
LAMB3 p.Glu210Lys (p.E210K) ( ENST00000367030.7, ENST00000391911.5, ENST00000356082.9 )
LAMB3 p.Lys207Gln (p.K207Q) ( ENST00000356082.9, ENST00000391911.5, ENST00000367030.7 )
LAMB3 p.Gly199Ala (p.G199A) ( ENST00000367030.7, ENST00000391911.5, ENST00000356082.9 )
LAMB3 c.565-3T>C ( ENST00000367030.7, ENST00000356082.9, ENST00000391911.5 )
LAMB3 p.Arg635Ter (p.R635*) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 )
LAMB3 c.629-1G>A ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 )
LAMB3 c.628+42G>A ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 )
LAMB3 p.Glu210Lys (p.E210K) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 )
LAMB3 p.Lys207Gln (p.K207Q) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 )
LAMB3 p.Gly199Ala (p.G199A) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 )
LAMB3 c.565-3T>C ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 ) - Associated Disease
- Adult junctional epidermolysis bullosa (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- NA
Drugs