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Search Results: 4 unique variants retrieved
c.1217C>G
p.Ser406* (360)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31200
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
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.1217C>T
p.Ser406Leu (360)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31200
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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Patient Information : Show
c.1217_1218insGAGAT
p.Ser406Glufs*22 (360)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31200
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
5
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1218A>G
p.Ser406Ser (360)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31201
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.