Search Results: 2 unique variants retrieved
c.418dup
p.(Arg140Lysfs*7) (94)
Variant Type:
Duplication
Domain:
EGF2
cDNA number:
418
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 (Duplication | Frameshift) of variant at Exon 5.
Individual Case Information :
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c.420A>T
p.(Arg140Ser) (94)
Variant Type:
Point
Domain:
EGF2
cDNA number:
420
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show