Search Results: 8 unique variants retrieved
c.234dup
p.(Glu79*) (33)
Variant Type:
Duplication
Domain:
Gla
cDNA number:
234
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
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 (Duplication | Frameshift) of variant at Exon 2.
Individual Case Information :
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c.235G>C
p.(Glu79Gln) (33)
Variant Type:
Point
Domain:
Gla
cDNA number:
235
Variant Effect:
Missense
Location:
Exon(2)
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.235_236insGG
p.(Glu79Glyfs*26) (33)
Variant Type:
Insertion
Domain:
Gla
cDNA number:
235
Variant Effect:
Frameshift
Location:
Exon(2)
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 (Insertion | Frameshift) of variant at Exon 2.
Individual Case Information :
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c.235G>A
p.(Glu79Lys) (33)
Variant Type:
Point
Domain:
Gla
cDNA number:
235
Variant Effect:
Missense
Location:
Exon(2)
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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c.236A>C
p.(Glu79Ala) (33)
Variant Type:
Point
Domain:
Gla
cDNA number:
236
Variant Effect:
Missense
Location:
Exon(2)
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.236A>G
p.(Glu79Gly) (33)
Variant Type:
Point
Domain:
Gla
cDNA number:
236
Variant Effect:
Missense
Location:
Exon(2)
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.236A>T
p.(Glu79Val) (33)
Variant Type:
Point
Domain:
Gla
cDNA number:
236
Variant Effect:
Missense
Location:
Exon(2)
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.237A>C
p.(Glu79Asp) (33)
Variant Type:
Point
Domain:
Gla
cDNA number:
237
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show