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Search Results: 5 unique variants retrieved
c.464G>A
p.Cys155Tyr (109)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17741
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.464G>C
p.Cys155Ser (109)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17741
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.464G>T
p.Cys155Phe (109)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17741
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
8
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.465C>T
p.Cys155Cys (109)
Mutation Type:
Polymorphism
Domain:
EGF2
Nucleotide number:
17742
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.
Patient Information : Show
c.466_467insCCTGCT
p.Ser156_Cys157insCysSer (109)
Mutation Type:
Insertion
Domain:
EGF2
Nucleotide number:
17743
Mutation Effect:
Inframe
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
6
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Inframe) of mutation at Exon 5.