Search Results: 4 unique variants retrieved
c.1059_1068del
p.(Ser354Glufs*11) (308)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1059
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
10
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.1060A>C
p.(Ser354Arg) (308)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1060
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.1061G>A
p.(Ser354Asn) (308)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1061
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.1062T>G
p.(Ser354Arg) (308)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1062
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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