The
UMD-MEN1
mutations database
Phe to Leu mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Phe447Leu
c.1341T>G
9
447
Pem,NM,RP,HD,CH
Small rearrangement
Tv
T->G
3
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
920
03-KR05-F01B-968
Male
Heterozygous
LIKELY CAUSAL
W2030
0
917
03-BL01-E13I-979
Female
Heterozygous
LIKELY CAUSAL
W2030
0
919
03-BL01-S25L-957
Female
Heterozygous
LIKELY CAUSAL
W2030
0