Search Results: 5 unique variants retrieved
c.1150C>T
p.(Arg384*) (338)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1150
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
41
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.1150_1151delinsGC
p.(Arg384Ala) (338)
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1150
Variant Effect:
Inframe
Location:
Exon(8)
CpG:
No. of cases reported:
1
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 (Indel | Inframe) of variant at Exon 8.
Individual Case Information :
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c.1151G>T
p.(Arg384Leu) (338)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1151
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.1151_1154del
p.(Arg384Leufs*41) (338)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1151
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
4
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.1151G>C
p.(Arg384Pro) (338)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1151
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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