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Search Results: 5 unique variants retrieved
c.355T>C
p.Cys119Arg (73)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10469
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.356G>A
p.Cys119Tyr (73)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10470
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.356G>T
p.Cys119Phe (73)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10470
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.357T>A
p.Cys119* (73)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10471
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.357_358insCGGTGT
p.Cys119fs*? (73)
Mutation Type:
Insertion
Domain:
EGF1
Nucleotide number:
10471
Mutation Effect:
Frameshift
Location:
Exon(4)
CpG:
-
No. of patients reported:
1
No. of bases:
6
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 4.