Search Results: 5 unique variants retrieved
c.1087G>A
p.(Gly363Arg) (317)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1087
Variant Effect:
Missense
Location:
Exon(8)
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.1087G>C
p.(Gly363Arg) (317)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1087
Variant Effect:
Missense
Location:
Exon(8)
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.1087G>T
p.(Gly363Trp) (317)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1087
Variant Effect:
Missense
Location:
Exon(8)
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.1088_1096delGGAGATCAinsA
p.(Gly363Aspfs*8) (317)
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1088
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
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 8.
Individual Case Information :
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c.1088G>A
p.(Gly363Glu) (317)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1088
Variant Effect:
Missense
Location:
Exon(8)
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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