Search Results: 6 unique variants retrieved
c.1276A>G
p.(Thr426Ala) (380)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1276
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.1276A>C
p.(Thr426Pro) (380)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1276
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.1277C>A
p.(Thr426Asn) (380)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1277
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.1277C>T
p.(Thr426Ile) (380)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1277
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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.1277C>G
p.(Thr426Ser) (380)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1277
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.1278delT
p.(Thr426Thrfs*12) (380)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1278
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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