Search Results: 6 unique variants retrieved
c.427C>T
p.(Gln143*) (97)
Variant Type:
Point
Domain:
EGF2
cDNA number:
427
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.427C>G
p.(Gln143Glu) (97)
Variant Type:
Point
Domain:
EGF2
cDNA number:
427
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.427C>A
p.(Gln143Lys) (97)
Variant Type:
Point
Domain:
EGF2
cDNA number:
427
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 :
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c.428A>G
p.(Gln143Arg) (97)
Variant Type:
Point
Domain:
EGF2
cDNA number:
428
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 :
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c.428A>C
p.(Gln143Pro) (97)
Variant Type:
Point
Domain:
EGF2
cDNA number:
428
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.429delG
p.(Gln143Hisfs*60) (97)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
429
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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