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Search Results: 2 unique variants retrieved
c.406delA
p.Ile136Leufs*67 (90)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17683
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.407T>C
p.Ile136Thr (90)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17684
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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