Variant "FBN1:p.Ser1039*"
Search result: 1 record
Variant information
Gene:
Variant:
FBN1:p.Ser1039*
Mouse homolog:
Fbn1:p.Cys1039Tyr
dbSNP ID:
no data
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
destabilized plasma membrane and/or an altered extracellular matrix(1)
Detail: