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Search Results: 4 unique variants retrieved
c.382T>C
p.Cys128Arg (82)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10496
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.383G>C
p.Cys128Ser (82)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10497
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.383G>A
p.Cys128Tyr (82)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10497
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.384T>C
p.Cys128Cys (82)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10498
Mutation Effect:
Silent
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 (Polymorphism | Silent) of mutation at Exon 4.