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Search Results: 6 unique variants retrieved
c.276del
p.Asp93fs*? (47)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
6701
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 3.
Patient Information : Show
c.277G>A
p.Asp93Asn (47)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
6702
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.277G>C
p.Asp93HIs (47)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
6702
Mutation Effect:
Missense
Location:
Exon(3)
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.277G>T
p.Asp93Tyr (47)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
6702
Mutation Effect:
Missense
Location:
Exon(3)
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.278A>G
p.Asp93Gly (47)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10392
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.279T>A
p.Asp93Glu (47)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10393
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.