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Search Results: 5 unique variants retrieved
c.52_53insTC
p.Cys18Phefs*4 (-29)
Mutation Type:
Insertion
Domain:
Signal Peptide
Nucleotide number:
81
Mutation Effect:
Frameshift
Location:
Exon(1)
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 1.
Patient Information : Show
c.52T>C
p.Cys18Arg (-28)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
81
Mutation Effect:
Missense
Location:
Exon(1)
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.53G>T
p.Cys18Phe (-29)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
82
Mutation Effect:
Missense
Location:
Exon(1)
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.53G>C
p.Cys18Ser (-28)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
82
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
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.54C>T
p.Cys18Cys (-28)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
83
Mutation Effect:
Silent
Location:
Exon(1)
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 1.