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Search Results: 6 unique variants retrieved
c.481T>A
p.Tyr161Asn (115)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17758
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.481delT
p.Tyr161Ilefs*42 (115)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17758
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.482A>G
p.Tyr161Cys (115)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17759
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.483T>A
p.Tyr161* (115)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17760
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.483delT
p.Tyr161Tyrfs*42 (115)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17760
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.483T>C
p.Tyr161Tyr (115)
Mutation Type:
Polymorphism
Domain:
EGF2
Nucleotide number:
17760
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.