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Search Results: 3 unique variants retrieved
c.457G>A
p.Val153Met (107)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17734
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.458T>C
p.Val153Ala (107)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17735
Mutation Effect:
Missense
Location:
Exon(5)
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.459G>A
p.Val153Val (107)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17736
Mutation Effect:
Silent
Location:
Exon(5)
CpG:
N
No. of patients reported:
12
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Silent) of mutation at Exon 5.