The
UMD-MEN1
mutations database
Ile to Ile mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Ile360Ile
c.1080C>T
8
360
Ju,NF,Pem,NM,RP,FA,HD
Small rearrangement
Ts
C->T
2
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
806
03-TR01-C01T-963
Female
Heterozygous
LIKELY NEUTRAL
0
136
04-VI07-V05R-970
Female
Heterozygous
LIKELY NEUTRAL
0