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Search Results: 4 unique variants retrieved
c.352T>A
p.Trp118Arg (72)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10466
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.353G>A
p.Trp118* (72)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10467
Mutation Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of patients reported:
7
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 4.
Patient Information : Show
c.354_3556dup
p.Trp118dup (72)
Mutation Type:
Duplication
Domain:
EGF1
Nucleotide number:
10468
Mutation Effect:
Inframe
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Duplication | Inframe) of mutation at Exon 4.
Patient Information : Show
c.354G>A
p.Trp118* (72)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10468
Mutation Effect:
nonsense
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 (Polymorphism | nonsense) of mutation at Exon 4.