The
UMD-CSB
mutations database
Glu to Stop mutations
Variation type
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu379X
c.1135G>T
5
379
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Disease
References
37
CS393VI
Heterozygous
FRANCE
0