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Search Results: 4 unique variants retrieved
c.385G>A
p.Glu129Lys (83)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10499
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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Patient Information : Show
c.385_390delGAATTA
p.Glu129_Leu130del (83)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
10499
Mutation Effect:
Inframe
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
6
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 4.
Patient Information : Show
c.385G>T
p.Glu129* (83)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10499
Mutation Effect:
nonsense
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 (Polymorphism | nonsense) of mutation at Exon 4.
Patient Information : Show
c.386A>G
p.Glu129Gly (83)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10500
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.