The
UMD-MEN1
mutations database
Glu to Val mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu290Val
c.869A>T
6
290
Pem,NM,RP,NMH,FA,HD
Small rearrangement
Tv
A->T
2
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1920
04-ST05-J05-986
Female
UV
0
108
04-ST05-J05N-986
Female
Heterozygous
UV
0