Search Results: 6 unique variants retrieved
c.946_953dup
p.(Glu320Profs*9) (274)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
946
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 (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.957_958delGGinsC
p.(Glu320Asnfs*6) (274)
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
957
Variant Effect:
Frameshift
Location:
Exon(8)
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 (Indel | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.958G>T
p.(Glu320*) (274)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
958
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
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 (Point | Nonsense) of variant at Exon 8.
Individual Case Information :
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c.959A>G
p.(Glu320Gly) (274)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
959
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.960A>C
p.(Glu320Asp) (274)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
960
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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.960delA
p.(Glu320Aspfs*6) (274)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
960
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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 (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information :
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