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Search Results: 3 unique variants retrieved
c.415G>A
p.Gly139Ser (93)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17692
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
13
No. of bases:
1
Structural Information
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Patient Information : Show
c.416G>T
p.Gly139Val (93)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17693
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.416G>A
p.Gly139Asp (93)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17693
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.