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Search Results: 3 unique variants retrieved
c.712T>G
p.Phe238Val (192)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20554
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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Patient Information : Show
c.712T>G
p.Phe238Val (192)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
20554
Mutation Effect:
Missense
Location:
Exon(6)
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.714C>T
p.Phe238Phe (192)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
20556
Mutation Effect:
Silent
Location:
Exon(6)
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 6.