Search Results: 4 unique variants retrieved
c.481delT
p.(Tyr161Ilefs*42) (115)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
481
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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c.482A>G
p.(Tyr161Cys) (115)
Variant Type:
Point
Domain:
EGF2
cDNA number:
482
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
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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c.483T>A
p.(Tyr161*) (115)
Variant Type:
Point
Domain:
EGF2
cDNA number:
483
Variant Effect:
Nonsense
Location:
Exon(5)
CpG:
N
No. of cases reported:
2
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 5.
Individual Case Information :
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c.483delT
p.(Tyr161Tyrfs*42) (115)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
483
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