Search Results: 4 unique variants retrieved
c.127delC
p.(Arg43Glyfs*61) (-4)
Variant Type:
Deletion
Domain:
Pro-Peptide
cDNA number:
127
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
Y
No. of cases reported:
1
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 2.
Individual Case Information :
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c.127C>T
p.(Arg43Trp) (-4)
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
127
Variant Effect:
Missense
Location:
Exon(2)
CpG:
Y
No. of cases reported:
72
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.128G>A
p.(Arg43Gln) (-4)
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
128
Variant Effect:
Missense
Location:
Exon(2)
CpG:
Y
No. of cases reported:
98
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.128G>T
p.(Arg43Leu) (-4)
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
128
Variant Effect:
Missense
Location:
Exon(2)
CpG:
Y
No. of cases reported:
17
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show