alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Primary = 'VUS (Unknown clinical significance)'
Primary
1 - 4 of 4
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
1109
c.1109+3A>G
VUS (Unknown clinical significance)
Intron 8
1
1
1230
c.1230+5G>A
VUS (Unknown clinical significance)
Intron 9
2
2
1501
c.1501T>A
p.Cys501Ser
VUS (Unknown clinical significance)
Exon 12
2885
c.2885G>A
p.Arg962His
VUS (Unknown clinical significance)
Exon 23
1 - 4 of 4
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Primary Mutation Type Distribution