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Search Results: 3 unique variants retrieved
c.971C>A
p.Pro324His (278)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30954
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.971C>T
p.Pro324Leu (278)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30954
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.
Patient Information : Show
c.972C>T
p.Pro324Pro (278)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30955
Mutation Effect:
Silent
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Polymorphism | Silent) of mutation at Exon 8.