Search Results: 10 unique variants retrieved
c.1066T>A
p.(Trp356Arg) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1066
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1066T>C
p.(Trp356Arg) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1066
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.1066T>G
p.(Trp356Gly) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1066
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.1067G>A
p.(Trp356*) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1067
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
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.1067G>T
p.(Trp356Leu) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1067
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1067G>C
p.(Trp356Ser) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1067
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.1068G>A
p.(Trp356*) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1068
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.1068_1069delinsAA
p.(Trp356*) Legacy AA 310
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1068
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
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.1068G>C
p.(Trp356Cys) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1068
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.1068G>T
p.(Trp356Cys) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1068
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 :
Show