Search Results: 4 unique variants retrieved
c.1300G>T
p.(Glu434*) (388)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1300
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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.1300G>A
p.(Glu434Lys) (388)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1300
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.1301A>G
p.(Glu434Gly) (388)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1301
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.1301_1302delAG
p.(Glu434Valfs*21) (388)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1301
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 (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information :
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