Data Export Options:
Search Results: 7 unique variants retrieved
c.688G>A
p.Gly230Arg (184)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20530
Mutation Effect:
Missense
Location:
Exon(6)
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.688_690delGGA
p.Gly230del (184)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
20530
Mutation Effect:
Inframe
Location:
Exon(6)
CpG:
N
No. of patients reported:
2
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 6.
Patient Information : Show
c.688G>A
p.Gly230Arg (184)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
20530
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
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.689G>C
p.Gly230Ala (184)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20531
Mutation Effect:
Missense
Location:
Exon(6)
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.689G>A
p.Gly230Glu (184)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20531
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
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.689_691delGAG
p.Gly230del (184)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
20531
Mutation Effect:
Inframe
Location:
Exon(6)
CpG:
N
No. of patients reported:
8
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 6.
Patient Information : Show
c.689G>A
p.Gly230Glu (184)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
20531
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.