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Search Results: 7 unique variants retrieved
c.478G>A
p.Gly160Arg (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17755
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
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c.478G>T
p.Gly160* (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17755
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.478G>C
p.Gly160Arg (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17755
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.479G>A
p.Gly160Glu (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17756
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.479G>C
p.Gly160Ala (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17756
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.479G>T
p.Gly160Val (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17756
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.479delG
p.Gly160Aspfs*43 (114)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17756
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.