Search Results: 4 unique variants retrieved
c.880C>T
p.(Arg294*) (248)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
880
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
92
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 (Point | Nonsense) of variant at Exon 8.
Individual Case Information :
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c.880C>G
p.(Arg294Gly) (248)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
880
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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.881G>A
p.(Arg294Gln) (248)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
881
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
140
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.881G>T
p.(Arg294Leu) (248)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
881
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
12
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show