The
UMD-MEN1
mutations database
His to Insertion mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.His272ProfsX45
c.814dup
5
272
Sm,NM,NMH,FA,HD
Small rearrangement
Fr.
Stop at 316
13
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1391
01-HA13-M01R-944
Female
Heterozygous
CAUSAL
W59
9
665
03-LU18-M01R-996
Female
Heterozygous
CAUSAL
W59
3
668
03-DU02-D15R-001
Male
Heterozygous
CAUSAL
W59
3
669
03-DU02-F12O-994
Female
Heterozygous
CAUSAL
W59
3
673
03-DU02-F18A-964
Male
Heterozygous
CAUSAL
W59
3
674
03-M012-C25R-978
Male
Heterozygous
CAUSAL
W59
9
675
03-LU18-S15P-970
Female
Heterozygous
CAUSAL
W59
9
676
03-MO12-M01R-956
Female
Heterozygous
CAUSAL
W59
9
677
03-HA13-M09C-972
Male
Heterozygous
CAUSAL
W59
9
678
03-DU02-E20I-969
Male
Heterozygous
CAUSAL
W59
9
679
03-ME18-M01R-947
Female
Heterozygous
CAUSAL
W59
9
682
03-DU02-M01X-001
Male
Heterozygous
CAUSAL
W59
3
1390
01-HA13-M09C-945
Male
Heterozygous
CAUSAL
W59
9