The
UMD-MEN1
mutations database
Asp to Val mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Asp172Val
c.515A>T
3
172
Ju,Sm,NMH,HD,NM
Small rearrangement
Tv
A->T
2
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1424
01-PA12-E12I-949
Female
Heterozygous
CAUSAL
W268
41
1423
01-PA12-M09R-951
Female
Heterozygous
CAUSAL
W268
41