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Search Results: 4 unique variants retrieved
c.433T>C
p.Cys145Arg (99)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17710
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.433T>G
p.Cys145Gly (99)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17710
Mutation Effect:
Missense
Location:
Exon(5)
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.434G>A
p.Cys145Tyr (99)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17711
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.435_439delTAAAA
p.Cys145* (99)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17712
Mutation Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
5
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 5.