Data Export Options:
Search Results: 6 unique variants retrieved
c.226G>C
p.Glu76Gln (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6463
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.226G>A
p.Glu76Lys (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6463
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.226G>T
p.Glu76* (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6463
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 2.
Patient Information : Show
c.227A>C
p.Glu76Ala (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6464
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
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.227_229delAAG
p.Glu76del (30)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6464
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.228A>C
p.Glu76Asp (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6465
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.