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Search Results: 6 unique variants retrieved
c.7C>A
p.Arg3Ser (-43)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
36
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.7C>T
p.Arg3Cys (-43)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
36
Mutation Effect:
Missense
Location:
Exon(1)
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.8G>A
p.Arg3His (-44)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
37
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
Y
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.8G>A
p.Arg3His (-43)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
37
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
Y
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.9C>G
p.Arg3Arg (-43)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
38
Mutation Effect:
Silent
Location:
Exon(1)
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 1.
Patient Information : Show
c.9C>T
p.Arg3Arg (-43)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
38
Mutation Effect:
Silent
Location:
Exon(1)
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 1.