Search Results: 4 unique variants retrieved
c.1207_1214dup
p.(Asp405Glufs*24) (359)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1207
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
No. of cases reported:
1
No. of bases:
8
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.1213G>A
p.(Asp405Asn) (359)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1213
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1213_1214delGA
p.(Asp405Phefs*6) (359)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1213
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 (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.1214A>G
p.(Asp405Gly) (359)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1214
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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