The
UMD-MEN1
mutations database
Cys to Arg mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Cys165Arg
c.493T>C
3
165
Ju,Sm,NMH,HD,NM
Small rearrangement
Ts
T->C
3
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
501
03-CO12-G21I-000
Male
Heterozygous
LIKELY CAUSAL
W1021
9
41
04-FL05-G09L-963
Male
Heterozygous
LIKELY CAUSAL
W101
3
480
03-CO12-R01P-971
Male
Heterozygous
LIKELY CAUSAL
W1021
14