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Search Results: 6 unique variants retrieved
c.283G>T
p.Asp95Tyr (49)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10397
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.283_285delGATinsA
p.Asp95Thrfs*3 (49)
Mutation Type:
Indel
Domain:
EGF1
Nucleotide number:
10397
Mutation Effect:
Frameshift
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Frameshift) of mutation at Exon 4.
Patient Information : Show
c.284A>G
p.Asp95Gly (49)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10398
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.284A>T
p.Asp95Val (49)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10398
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
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.284delA
p.Asp95Valfs*9 (49)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
10398
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 (Deletion | Frameshift) of mutation at Exon 4.
Patient Information : Show
c.284A>C
p.Asp95Ala (49)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10398
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.