The
UMD-MEN1
mutations database
Ile to Thr mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Ile247Thr
c.740T>C
4
247
Sm,NM,NMH,FA,HD
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1985
04-HO13-M01-952
Female
UV
0