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Search Results: 2 unique variants retrieved
c.833T>C
p.Val278Ala (232)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30148
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.834C>T
p.Val278Val (232)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30149
Mutation Effect:
Silent
Location:
Exon(7)
CpG:
-
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.