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Search Results: 5 unique variants retrieved
c.343T>C
p.Tyr115His (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10457
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.343T>A
p.Tyr115Asn (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10457
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.344A>C
p.Tyr115Ser (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10458
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.344A>G
p.Tyr115Cys (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10458
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
12
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.345T>A
p.Tyr115Tyr (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10459
Mutation Effect:
Silent
Location:
Exon(4)
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 (Point | Silent) of mutation at Exon 4.