Search Results: 6 unique variants retrieved
c.322delT
p.(Cys108Alafs*23) (62)
Variant Type:
Deletion
Domain:
EGF1
cDNA number:
322
Variant Effect:
Frameshift
Location:
Exon(4)
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 (Deletion | Frameshift) of variant at Exon 4.
Individual Case Information :
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c.323G>T
p.(Cys108Phe) (62)
Variant Type:
Point
Domain:
EGF1
cDNA number:
323
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 :
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c.323G>C
p.(Cys108Ser) (62)
Variant Type:
Point
Domain:
EGF1
cDNA number:
323
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 :
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c.323G>A
p.(Cys108Tyr) (62)
Variant Type:
Point
Domain:
EGF1
cDNA number:
323
Variant Effect:
Missense
Location:
Exon(4)
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.324C>A
p.(Cys108*) (62)
Variant Type:
Point
Domain:
EGF1
cDNA number:
324
Variant Effect:
Nonsense
Location:
Exon(4)
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 4.
Individual Case Information :
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c.324C>G
p.(Cys108Trp) (62)
Variant Type:
Point
Domain:
EGF1
cDNA number:
324
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 :
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