Search Results: 6 unique variants retrieved
c.1219T>C
p.(Cys407Arg) (361)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1219
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.1219T>G
p.(Cys407Gly) (361)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1219
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.1219T>A
p.(Cys407Ser) (361)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1219
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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c.1220G>T
p.(Cys407Phe) (361)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1220
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.1220delG
p.(Cys407Phefs*19) (361)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1220
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
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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c.1220G>A
p.(Cys407Tyr) (361)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1220
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 :
Show