Search Results: 6 unique variants retrieved
c.160G>C
p.(Glu54Gln) (8)
Variant Type:
Point
Domain:
Gla
cDNA number:
160
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.160G>A
p.(Glu54Lys) (8)
Variant Type:
Point
Domain:
Gla
cDNA number:
160
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.161A>C
p.(Glu54Ala) (8)
Variant Type:
Point
Domain:
Gla
cDNA number:
161
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.161A>G
p.(Glu54Gly) (8)
Variant Type:
Point
Domain:
Gla
cDNA number:
161
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.161_162del
p.(Glu54Valfs*7) (8)
Variant Type:
Deletion
Domain:
Gla
cDNA number:
161
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
6
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 2.
Individual Case Information :
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c.162G>C
p.(Glu54Asp) (8)
Variant Type:
Point
Domain:
Gla
cDNA number:
162
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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