Search Results: 7 unique variants retrieved
c.421T>C
p.(Cys141Arg) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
421
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.421T>A
p.(Cys141Ser) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
421
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.422G>T
p.(Cys141Phe) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
422
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.422G>C
p.(Cys141Ser) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
422
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.422G>A
p.(Cys141Tyr) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
422
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
8
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.423C>A
p.(Cys141*) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
423
Variant Effect:
Nonsense
Location:
Exon(5)
CpG:
N
No. of cases reported:
7
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.423C>G
p.(Cys141Trp) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
423
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
5
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show