The
UMD-CSB
mutations database
Val to Insertion mutations
Variation type
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Val417SerfsX7
c.1248dup
5
417
Small rearrangement
Fr.
Stop at 423
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Disease
References
24
CS179VI
Heterozygous
FRANCE
0