Search Results: 5 unique variants retrieved
c.286C>T
p.(Gln96*) (50)
Variant Type:
Point
Domain:
EGF1
cDNA number:
286
Variant Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of cases reported:
3
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.286C>G
p.(Gln96Glu) (50)
Variant Type:
Point
Domain:
EGF1
cDNA number:
286
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.287A>C
p.(Gln96Pro) (50)
Variant Type:
Point
Domain:
EGF1
cDNA number:
287
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.288G>C
p.(Gln96His) (50)
Variant Type:
Point
Domain:
EGF1
cDNA number:
288
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.288G>T
p.(Gln96His) (50)
Variant Type:
Point
Domain:
EGF1
cDNA number:
288
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