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Search Results: 6 unique variants retrieved
c.286C>A
p.Gln96Lys (50)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10400
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.286C>T
p.Gln96* (50)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10400
Mutation Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 4.
Patient Information : Show
c.286C>G
p.Gln96Glu (50)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10400
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.287A>C
p.Gln96Pro (50)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10401
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.288G>C
p.Gln96His (50)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10402
Mutation Effect:
Missense
Location:
Exon(4)
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.288G>T
p.Gln96His (50)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10402
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.