Search Results: 6 unique variants retrieved
c.1024A>G
p.(Thr342Ala) (296)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1024
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
5
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1024A>C
p.(Thr342Arg) (296)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1024
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.1024delA
p.(Thr342Argfs*12) (296)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1024
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.1025C>G
p.(Thr342Arg) (296)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1025
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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.1025C>A
p.(Thr342Lys) (296)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1025
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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.1025C>T
p.(Thr342Met) (296)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1025
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
322
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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