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Search Results: 5 unique variants retrieved
c.154T>C
p.Leu52Leu (6)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6391
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.154T>C
p.Leu52Leu (6)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6391
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.155T>C
p.Leu52Ser (6)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6392
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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Patient Information : Show
c.155delT
p.Leu52Leufs*52 (6)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6392
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
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.156G>A
p.Leu52Leu (6)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6393
Mutation Effect:
Silent
Location:
Exon(2)
CpG:
-
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.