alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Exon/Intron = 'Exon 12'
Exon/Intron
1 - 3 of 3
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
1441
c.1441G>T
p.Ala481Ser
Benign
Exon 12
1501
c.1501T>A
p.Cys501Ser
VUS (Unknown clinical significance)
Exon 12
1519
c.1519delG
p.Ala507Argfs*16
Deletion
Exon 12
1
2
1 - 3 of 3
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Primary Mutation Type Distribution