Search Results: 5 unique variants retrieved
c.1342delT
p.(Ser448Profs*35) (402)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1342
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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.1343_1350delCCCGGTAT
p.(Ser448Cysfs*5) (402)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1343
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
8
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.1343C>T
p.(Ser448Phe) (402)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1343
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.1343C>A
p.(Ser448Tyr) (402)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1343
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.1344_1345delCCinsAAGGTACCAA
p.(Ser448fs*?) (402)
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1344
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 (Indel | Frameshift) of variant at Exon 8.
Individual Case Information :
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