Search Results: 6 unique variants retrieved
c.870dupA
p.(Glu291Argfs*21) (245)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
870
Variant Effect:
Frameshift
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 (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.871G>T
p.(Glu291*) (245)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
871
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.871G>A
p.(Glu291Lys) (245)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
871
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.872A>G
p.(Glu291Gly) (245)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
872
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.872A>T
p.(Glu291Val) (245)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
872
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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c.873G>T
p.(Glu291Asp) (245)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
873
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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