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Search Results: 6 unique variants retrieved
c.391_392insG
p.Asp131Glyfs*5 (85)
Mutation Type:
Insertion
Domain:
EGF2
Nucleotide number:
10505
Mutation Effect:
Frameshift
Location:
Exon(4)
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 4.
Patient Information : Show
c.391delG
p.Asp177Metfs*1 (85)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
10506
Mutation Effect:
Frameshift
Location:
Exon(4)
CpG:
-
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 4.
Patient Information : Show
c.392A>T
p.Asp131Val (85)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17669
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.392A>C
p.Asp131Ala (85)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17669
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.392_398delATGTAAC
p.Asp131Metfs*2 (85)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17669
Mutation Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
7
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.392delA
p.Asp131Valfs*2 (85)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17669
Mutation Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of patients reported:
6
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.