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Search Results: 3 unique variants retrieved
c.1111T>C
p.Tyr371His (325)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31094
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.1113C>A
p.Tyr371* (325)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31096
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
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.1113C>G
p.Tyr371* (325)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31096
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.