Search Results: 4 unique variants retrieved
c.189_191dupATG
p.(Cys64*) (18)
Variant Type:
Duplication
Domain:
Gla
cDNA number:
189
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
No. of cases reported:
1
No. of bases:
3
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.190T>C
p.(Cys64Arg) (18)
Variant Type:
Point
Domain:
Gla
cDNA number:
190
Variant Effect:
Missense
Location:
Exon(2)
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.191G>T
p.(Cys64Phe) (18)
Variant Type:
Point
Domain:
Gla
cDNA number:
191
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.191G>A
p.(Cys64Tyr) (18)
Variant Type:
Point
Domain:
Gla
cDNA number:
191
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 :
Show