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Search Results: 2 unique variants retrieved
c.398C>T
p.Thr133Ile (87)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17675
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.399A>G
p.Thr133Thr (87)
Mutation Type:
Polymorphism
Domain:
EGF2
Nucleotide number:
17676
Mutation Effect:
Silent
Location:
Exon(5)
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 5.