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Search Results: 4 unique variants retrieved
c.412A>C
p.Asn138His (92)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17689
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
18
No. of bases:
1
Structural Information
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c.412delA
p.Asn138Metfs*65 (92)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17689
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 5.
Patient Information : Show
c.413A>G
p.Asn138Ser (92)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17690
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.414T>A
p.Asn138Lys (92)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17691
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.