Search Results: 6 unique variants retrieved
c.1301_1302dup
p.(Cys435*) (389)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1303
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 (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.1303T>C
p.(Cys435Arg) (389)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1303
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.1303T>G
p.(Cys435Gly) (389)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1303
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.1303T>A
p.(Cys435Ser) (389)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1303
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.1304G>T
p.(Cys435Tyr) (389)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1304
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.1304G>A
p.(Cys435Tyr) (389)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1304
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
13
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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