Search Results: 4 unique variants retrieved
c.334_335del
p.(Ile112*) (66)
Variant Type:
Deletion
Domain:
EGF1
cDNA number:
334
Variant Effect:
Frameshift
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
2
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.335T>A
p.(Ile112Asn) (66)
Variant Type:
Point
Domain:
EGF1
cDNA number:
335
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.335T>G
p.(Ile112Ser) (66)
Variant Type:
Point
Domain:
EGF1
cDNA number:
335
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.335T>C
p.(Ile112Thr) (66)
Variant Type:
Point
Domain:
EGF1
cDNA number:
335
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 :
Show