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Search Results: 3 unique variants retrieved
c.373G>A
p.Gly125Arg (79)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10487
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
2
No. of bases:
1
Structural Information
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Patient Information : Show
c.374G>A
p.Gly125Glu (79)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10488
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
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.374G>T
p.Gly125Val (79)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10488
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.