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Search Results: 7 unique variants retrieved
c.1069G>A
p.Gly357Arg (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31052
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
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c.1069G>T
p.Gly357* (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31052
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.1069G>T
p.Gly357* (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31052
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.
Patient Information : Show
c.1069G>C
p.Gly357Arg (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31052
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1070G>A
p.Gly357Glu (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31053
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
17
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1070G>T
p.Gly357Val (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31053
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1070delG
p.Gly357Glufs*11 (311)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31053
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.