The
UMD-MEN1
mutations database
Pro to His mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Pro320His
c.959C>A
7
320
NF,NM,RP,FA,HD
Small rearrangement
Tv
C->A
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
122
04-RA14-P08I-941
Male
Heterozygous
LIKELY CAUSAL
0