Search Results: 6 unique variants retrieved
c.157G>C
p.(Glu53Gln) (7)
Variant Type:
Point
Domain:
Gla
cDNA number:
157
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.157G>A
p.(Glu53Lys) (7)
Variant Type:
Point
Domain:
Gla
cDNA number:
157
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 :
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c.158A>C
p.(Glu53Ala) (7)
Variant Type:
Point
Domain:
Gla
cDNA number:
158
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.158A>G
p.(Glu53Gly) (7)
Variant Type:
Point
Domain:
Gla
cDNA number:
158
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.158_165delAAGAGTTT insGTAAATTGGAAG
p.(Glu53Glyfs*10) (7)
Variant Type:
Indel
Domain:
Gla
cDNA number:
158
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Frameshift) of variant at Exon 2.
Individual Case Information :
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c.158A>T
p.(Glu53Val) (7)
Variant Type:
Point
Domain:
Gla
cDNA number:
158
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 :
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