Search Results: 5 unique variants retrieved
c.1069G>T
p.(Gly357*) (311)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1069
Variant Effect:
Nonsense
Location:
Exon(8)
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 (Point | Nonsense) of variant at Exon 8.
Individual Case Information :
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c.1069G>A
p.(Gly357Arg) (311)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1069
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1070G>A
p.(Gly357Glu) (311)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1070
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1070del
p.(Gly357Glufs*11) (311)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1070
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
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 (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.1070G>T
p.(Gly357Val) (311)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1070
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 :
Show