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Search Results: 7 unique variants retrieved
c.172G>C
p.Gly58Arg (12)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6409
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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c.172G>A
p.Gly58Arg (12)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6409
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.173G>A
p.Gly58Glu (12)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6410
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.173G>C
p.Gly58Ala (12)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6410
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.173G>T
p.Gly58Val (12)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6410
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.
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c.174delG
p.Gly58Glyfs*46 (12)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6411
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.174G>A
p.Gly58Gly (12)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6411
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.