Search Results: 6 unique variants retrieved
c.400T>C
p.(Cys134Arg) (88)
Variant Type:
Point
Domain:
EGF2
cDNA number:
400
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.400T>G
p.(Cys134Gly) (88)
Variant Type:
Point
Domain:
EGF2
cDNA number:
400
Variant Effect:
Missense
Location:
Exon(5)
CpG:
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.401_407delGTAACAT
p.(Cys134Leufs*67) (88)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
401
Variant Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of cases reported:
3
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.401G>T
p.(Cys134Phe) (88)
Variant Type:
Point
Domain:
EGF2
cDNA number:
401
Variant Effect:
Missense
Location:
Exon(5)
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.401G>C
p.(Cys134Ser) (88)
Variant Type:
Point
Domain:
EGF2
cDNA number:
401
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.401G>A
p.(Cys134Tyr) (88)
Variant Type:
Point
Domain:
EGF2
cDNA number:
401
Variant Effect:
Missense
Location:
Exon(5)
CpG:
No. of cases reported:
6
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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