Search Results: 5 unique variants retrieved
c.412A>G
p.(Asn138Asp) (92)
Variant Type:
Point
Domain:
EGF2
cDNA number:
412
Variant Effect:
Missense
Location:
Exon(5)
CpG:
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.412A>C
p.(Asn138His) (92)
Variant Type:
Point
Domain:
EGF2
cDNA number:
412
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
9
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.413del
p.(Asn138Metfs*65) (92)
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
413
Variant Effect:
Frameshift
Location:
Exon(5)
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 5.
Individual Case Information :
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c.413A>G
p.(Asn138Ser) (92)
Variant Type:
Point
Domain:
EGF2
cDNA number:
413
Variant Effect:
Missense
Location:
Exon(5)
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.414T>A
p.(Asn138Lys) (92)
Variant Type:
Point
Domain:
EGF2
cDNA number:
414
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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