Search Results: 3 unique variants retrieved
c.1174A>G
p.(Asn392Asp) (346)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1174
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
9
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1174_1175dup
p.(Asn392Lysfs*35) (346)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1174
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
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 (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.1176_1180delinsG
p.(Asn392Lysfs*33) (346)
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1176
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
5
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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