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Search Results: 5 unique variants retrieved
c.757G>T
p.Gly253* (207)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30072
Mutation Effect:
Nonsense
Location:
Exon(7)
CpG:
N
No. of patients reported:
2
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 7.
Patient Information : Show
c.757G>A
p.Gly253Arg (207)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30072
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.758G>A
p.Gly253Glu (207)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30073
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
12
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.758G>T
p.Gly253Val (207)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30073
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.759A>C
p.Gly253Gly (207)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30074
Mutation Effect:
Silent
Location:
Exon(7)
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 7.