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Search Results: 2 unique variants retrieved
c.1120G>T
p.Val374Phe (328)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31103
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
12
No. of bases:
1
Structural Information
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Patient Information : Show
c.1120G>A
p.Val374Ile (328)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31103
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.