Search Results: 4 unique variants retrieved
c.289T>C
p.(Cys97Arg) (51)
Variant Type:
Point
Domain:
EGF1
cDNA number:
289
Variant Effect:
Missense
Location:
Exon(4)
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.289T>A
p.(Cys97Ser) (51)
Variant Type:
Point
Domain:
EGF1
cDNA number:
289
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.290G>A
p.(Cys97Tyr) (51)
Variant Type:
Point
Domain:
EGF1
cDNA number:
290
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.291T>G
p.(Cys97Trp) (51)
Variant Type:
Point
Domain:
EGF1
cDNA number:
291
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
6
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show