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Search Results: 6 unique variants retrieved
c.427C>G
p.Gln143Glu (97)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17704
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
8
No. of bases:
1
Structural Information
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c.427C>T
p.Gln143* (97)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17704
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.427C>A
p.Gln143Lys (97)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17704
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.428A>C
p.Gln143Pro (97)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17705
Mutation Effect:
Missense
Location:
Exon(5)
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.428A>G
p.Gln143Arg (97)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17705
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.429delG
p.Gln143Hisfs*60 (97)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17706
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.