Data Export Options:
Search Results: 6 unique variants retrieved
c.469T>C
p.Cys157Arg (111)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17746
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
-
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.470G>A
p.Cys157Tyr (111)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17747
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
26
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.470G>C
p.Cys157Ser (111)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17747
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.470G>T
p.Cys157Phe (111)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17747
Mutation Effect:
Missense
Location:
Exon(5)
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.471T>A
p.Cys157* (111)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17748
Mutation Effect:
Nonsense
Location:
Exon(5)
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 (Point | Nonsense) of mutation at Exon 5.
Patient Information : Show
c.471T>C
p.Cys157Cys (111)
Mutation Type:
Polymorphism
Domain:
EGF2
Nucleotide number:
17748
Mutation Effect:
Silent
Location:
Exon(5)
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 5.