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Search Results: 8 unique variants retrieved
c.349T>A
p.Cys117Ser (71)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10463
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.349T>C
p.Cys117Arg (71)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10463
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.350G>A
p.Cys117Tyr (71)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10464
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.350G>C
p.Cys117Ser (71)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10464
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.
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c.350G>T
p.Cys117Phe (71)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10464
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.350_351insACAATAATTCCTA
p.Cys117_Trp118delins* (71)
Mutation Type:
Insertion
Domain:
EGF1
Nucleotide number:
10464
Mutation Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
13
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Nonsense) of mutation at Exon 4.
Patient Information : Show
c.351T>A
p.Cys117* (71)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10465
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 4.
Patient Information : Show
c.351T>G
p.Cys117Trp (71)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10465
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.