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Search Results: 7 unique variants retrieved
c.934T>G
p.Tyr312Asp (266)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30917
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.934T>G
p.Tyr312Asp (266)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30917
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.935delA
p.Tyr312Serfs*14 (266)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30918
Mutation Effect:
Frameshift
Location:
Exon(8)
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.936C>A
p.Tyr312* (266)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30919
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.936C>G
p.Tyr312* (266)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30919
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
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.936delC
p.Tyr312* (266)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30919
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.936C>T
p.Tyr312Tyr (266)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30919
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.