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Search Results: 3 unique variants retrieved
c.1076T>G
p.Val359Gly (313)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31059
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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Patient Information : Show
c.1077_1078delCT
p.Val359Valfs*14 (313)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31060
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
2
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.1077C>A
p.Val359Val (313)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31060
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.