Search Results: 5 unique variants retrieved
c.507C>T
p.(Cys170Phe) (124)
Variant Type:
Point
Domain:
EGF2
cDNA number:
507
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.508T>C
p.(Cys170Arg) (124)
Variant Type:
Point
Domain:
EGF2
cDNA number:
508
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.509G>T
p.(Cys170Phe) (124)
Variant Type:
Point
Domain:
EGF2
cDNA number:
509
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.509G>C
p.(Cys170Ser) (124)
Variant Type:
Point
Domain:
EGF2
cDNA number:
509
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.509G>A
p.(Cys170Tyr) (124)
Variant Type:
Point
Domain:
EGF2
cDNA number:
509
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 :
Show