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Search Results: 3 unique variants retrieved
c.364G>A
p.Gly122Arg (76)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10478
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.364G>T
p.Gly122* (76)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10478
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 (Polymorphism | nonsense) of mutation at Exon 4.
Patient Information : Show
c.365G>T
p.Gly122Val (76)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10479
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.