Search Results: 4 unique variants retrieved
c.352T>A
p.(Trp118Arg) (72)
Variant Type:
Point
Domain:
EGF1
cDNA number:
352
Variant Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 4.
Individual Case Information :
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c.352T>A
p.(Trp118Arg) (72)
Variant Type:
Point
Domain:
EGF1
cDNA number:
352
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.353G>A
p.(Trp118*) (72)
Variant Type:
Point
Domain:
EGF1
cDNA number:
353
Variant Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of cases reported:
8
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 4.
Individual Case Information :
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c.354_356dup
p.(Trp118dup) (72)
Variant Type:
Duplication
Domain:
EGF1
cDNA number:
354
Variant Effect:
Inframe
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Duplication | Inframe) of variant at Exon 4.
Individual Case Information :
Show