Search Results: 3 unique variants retrieved
c.470_495dupGTACTGAGG GATATCGACTTGCAGAA
p.(Asn166Valfs*45) (120)
Variant Type:
Duplication
Domain:
EGF2
cDNA number:
470
Variant Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
No. of bases:
26
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.496A>T
p.(Asn166Tyr) (120)
Variant Type:
Point
Domain:
EGF2
cDNA number:
496
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.497delA
p.(Asn166Thrfs*37) (120)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
497
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 :
Show