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Search Results: 11 unique variants retrieved
c.235G>A
p.Glu79Lys (33)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6472
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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c.235G>C
p.Glu79Gln (33)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6472
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.235G>T
p.Glu79* (33)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6472
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.235_236insTTTTT
p.Glu79Valfs*? (33)
Mutation Type:
Insertion
Domain:
Gla
Nucleotide number:
6472
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
5
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.235_236insGG
p.Glu79Glyfs*26 (33)
Mutation Type:
Insertion
Domain:
Gla
Nucleotide number:
6472
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.236A>T
p.Glu79Val (33)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6473
Mutation Effect:
Missense
Location:
Exon(2)
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.236A>C
p.Glu79Ala (33)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6473
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.236A>G
p.Glu79Gly (33)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6473
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.236delA
p.Glu79Glufs*25 (33)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6473
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.236A>C
p.Glu79Ala (33)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6473
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
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.237A>C
p.Glu79Asp (33)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6474
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.