Data Export Options:
Search Results: 7 unique variants retrieved
c.52delT
p.Cys64Alafs*3 (18)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
81
Mutation Effect:
Frameshift
Location:
Exon(1)
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 1.
Patient Information : Show
c.190T>G
p.Cys64Gly (18)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6427
Mutation Effect:
Missense
Location:
Exon(2)
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.190T>C
p.Cys64Arg (18)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6427
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.191G>A
p.Cys64Tyr (18)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6428
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.191G>T
p.Cys64Phe (18)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6428
Mutation Effect:
Missense
Location:
Exon(2)
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.192T>C
p.Cys64Cys (18)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6429
Mutation Effect:
Silent
Location:
Exon(2)
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 2.
Patient Information : Show
c.192T>C
p.Cys64Cys (18)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6429
Mutation Effect:
Silent
Location:
Exon(2)
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 2.