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Search Results: 3 unique variants retrieved
c.1054T>A
p.Tyr352Asn (306)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31037
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.1056T>A
p.Tyr352* (306)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31039
Mutation Effect:
Nonsense
Location:
Exon(8)
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 8.
Patient Information : Show
c.1056T>G
p.Tyr352* (306)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31039
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.