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Search Results: 5 unique variants retrieved
c.892C>T
p.Arg298* (252)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30875
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
79
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.892delC
p.Arg298Glufs*28 (252)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30875
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
Y
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.893G>T
p.Arg298Leu (252)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30876
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
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.893G>A
p.Arg298Gln (252)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30876
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
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.894A>C
p.Arg298Arg (252)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30877
Mutation Effect:
Silent
Location:
Exon(8)
CpG:
N
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.
Patient Information : Show
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,
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