The
UMD-MEN1
mutations database
His to His mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.His199His
c.597C>T
3
199
Ju,Sm,NMH,HD,NM
Small rearrangement
Ts
C->T
18
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1656
02-TE07-M01R-962
Female
Heterozygous
UV
0
49
04-DU18-G09L-948
Female
Heterozygous
UV
W1001
0
50
04-IS19-A08M-981
Male
Heterozygous
UV
0
51
04-SE22-BI12A-940
Female
Heterozygous
UV
0
52
04-TU18-JA19-995
Male
Heterozygous
UV
W2096
0
53
04-TU18-S20A-995
Female
Heterozygous
UV
W2096
0
55
04-TU18-J05A-972
Male
Heterozygous
UV
W2096
0
456
03-FR01-Y22E-945
Female
Heterozygous
UV
W1001
0
457
03-MO14-M15N-947
Female
Heterozygous
UV
W1001
0
458
03-DU18-G09L-948
Female
Heterozygous
UV
W1001
0
500
03-TE18-S05B-969
Male
Heterozygous
UV
W2008
0
507
03-BO14-V05R-962
Female
Heterozygous
UV
W2008
0
514
03-VE12-J01C-974
Male
Heterozygous
UV
W223
0
523
03-VE12-E18I-965
Male
Heterozygous
UV
W223
0
524
03-VE12-D01N-964
Male
Heterozygous
UV
W223
0
525
03-VE12-J05A-970
Male
Heterozygous
UV
W223
0
528
03-SO15-J01C-934
Female
Heterozygous
UV
W223
0
1599
02-DU18-A21R-977
Female
Heterozygous
UV
W1001
0
p.His433His
c.1299T>C
9
433
Pem,NM,RP,HD,CH
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1677
Benign
0