Search Results: 5 unique variants retrieved
c.391+1dup
) (85)
Variant Type:
Duplication
Domain:
EGF2
cDNA number:
391
Variant Effect:
Splice
Location:
Intron(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 (Duplication | Splice) of variant at Intron 4.
Individual Case Information :
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c.392A>C
p.(Asp131Ala) (85)
Variant Type:
Point
Domain:
EGF2
cDNA number:
392
Variant Effect:
Missense
Location:
Exon(5)
CpG:
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.401_407del
p.(Asp131Metfs*2) (85)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
392
Variant Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
No. of bases:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 5.
Individual Case Information :
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c.392A>T
p.(Asp131Val) (85)
Variant Type:
Point
Domain:
EGF2
cDNA number:
392
Variant Effect:
Missense
Location:
Exon(5)
CpG:
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.392delA
p.(Asp131Valfs*2) (85)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
392
Variant Effect:
Frameshift
Location:
Exon(5)
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 (Deletion | Frameshift) of variant at Exon 5.
Individual Case Information :
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