The
UMD-CSB
mutations database
Asn to Insertion mutations
Variation type
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Lys1172X
c.3513dup
18
1171
Small rearrangement
Fr.
Stop at 1172
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Disease
References
3
CS881VI
Heterozygous
SPAIN
0