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Search Results: 4 unique variants retrieved
c.259T>G
p.Phe87Val (41)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6684
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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Patient Information : Show
c.259delT
p.Phe87Phefs*17 (41)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6684
Mutation Effect:
Frameshift
Location:
Exon(3)
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 3.
Patient Information : Show
c.259T>A
p.Phe87Ile (41)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6684
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.260T>G
p.Phe87Cys (41)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6685
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.