The
UMD-CSB
mutations database
Asp to Deletion mutations
Variation type
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Asp749GlufsX4
c.2247delT
11
749
Small rearrangement
Fr.
Stop at 752
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Disease
References
36
CS543VI
Heterozygous
FRANCE
0