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Search Results: 4 unique variants retrieved
c.808G>T
p.Glu270* (224)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30123
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.808G>A
p.Glu270Lys (224)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30123
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
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.808G>A
p.Glu270Lys (224)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30123
Mutation Effect:
Missense
Location:
Exon(7)
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.809A>C
p.Glu270Ala (224)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30124
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.