Search Results: 4 unique variants retrieved
c.982A>T
p.(Asn328Tyr) (282)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
982
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.983_985dupACA
p.(Asn328dup) (282)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
983
Variant Effect:
Inframe
Location:
Exon(8)
CpG:
No. of cases reported:
1
No. of bases:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Duplication | Inframe) of variant at Exon 8.
Individual Case Information :
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c.983A>T
p.(Asn328Ile) (282)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
983
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.984C>G
p.(Asn328Lys) (282)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
984
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 :
Show