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Search Results: 3 unique variants retrieved
c.497_498insC
p.Gln167Profs*5 (121)
Mutation Type:
Insertion
Domain:
EGF2
Nucleotide number:
17774
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 (Insertion | Frameshift) of mutation at Exon 5.
Patient Information : Show
c.499C>T
p.Gln167* (121)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17776
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.501G>T
p.Gln167His (121)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17778
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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