Search Results: 4 unique variants retrieved
c.684dup
p.(Gly229fsTrp*19) (183)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
684
Variant Effect:
Frameshift
Location:
Exon(6)
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 (Duplication | Frameshift) of variant at Exon 6.
Individual Case Information :
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c.685G>A
p.(Gly229Ser) (183)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
685
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
5
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.686G>T
p.(Gly229Val) (183)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
686
Variant Effect:
Missense
Location:
Exon(6)
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.687_689delTGG
p.(Gly229del) (183)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
687
Variant Effect:
Inframe
Location:
Exon(6)
CpG:
N
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 (Deletion | Inframe) of variant at Exon 6.
Individual Case Information :
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