Search Results: 7 unique variants retrieved
c.837dup
p.(Gly280Argfs*2) (234)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
837
Variant Effect:
Frameshift
Location:
Exon(7)
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 7.
Individual Case Information :
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c.838G>C
p.(Gly280Arg) (234)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
838
Variant Effect:
Missense
Location:
Exon(7)
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.838G>T
p.(Gly280Cys) (234)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
838
Variant Effect:
Missense
Location:
Exon(7)
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.838G>A
p.(Gly280Ser) (234)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
838
Variant Effect:
Missense
Location:
Exon(7)
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.839G>C
p.(Gly280Ala) (234)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
839
Variant Effect:
Missense
Location:
Exon(8)
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.839G>A
p.(Gly280Asp) (234)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
839
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.839G>T
p.(Gly280Val) (234)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
839
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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