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Search Results: 4 unique variants retrieved
c.274G>T
p.Val92Phe (46)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
6699
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.275T>C
p.Val92Ala (46)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6700
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.276_392del
p.Val92_Asp131del (46)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6701
Mutation Effect:
Inframe
Location:
Exon(3)
CpG:
N
No. of patients reported:
1
No. of bases:
-
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 3.
Patient Information : Show
c.276T>G
p.Val92Val (46)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6701
Mutation Effect:
Silent
Location:
Exon(3)
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 3.