Search Results: 4 unique variants retrieved
c.433T>C
p.(Cys145Arg) (99)
Variant Type:
Point
Domain:
EGF2
cDNA number:
433
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.433T>G
p.(Cys145Gly) (99)
Variant Type:
Point
Domain:
EGF2
cDNA number:
433
Variant Effect:
Missense
Location:
Exon(5)
CpG:
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.434G>A
p.(Cys145Tyr) (99)
Variant Type:
Point
Domain:
EGF2
cDNA number:
434
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 :
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c.435_439delTAAAA
p.(Cys145*) (99)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
435
Variant Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
No. of bases:
5
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 5.
Individual Case Information :
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