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Search Results: 13 unique variants retrieved
p.Gln109* (Legacy AA No. 49)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5
Patient Information : Show
p.Ser112* (Legacy AA No. 52)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGA > TCA
Variant Effect:
Nonsense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5
Patient Information : Show
p.Cys115* (Legacy AA No. 55)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGA > TGC
Variant Effect:
Nonsense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5
Patient Information : Show
p.Asn117Asp (Legacy AA No. 57)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
AAT > GAT
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Asn117Ile (Legacy AA No. 57)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
AAT > ATT
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Ser120Pro (Legacy AA No. 60)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TCC > CCC
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Cys121Phe (Legacy AA No. 61)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Cys121* (Legacy AA No. 61)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGC > TGA
Variant Effect:
Nonsense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5
Patient Information : Show
p.Tyr128Cys (Legacy AA No. 68)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Cys132* (Legacy AA No. 72)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGA > TGC
Variant Effect:
Nonsense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5
Patient Information : Show
p.Gly138Asp (Legacy AA No. 78)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Arg139Trp (Legacy AA No. 79)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
CGG > TGG
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Arg139Gln (Legacy AA No. 79)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
CGG > CAG
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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to see if there is the available information.