Search Results: 7 unique variants retrieved
c.721C>T
p.(Gln241*) (195)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
721
Variant Effect:
Nonsense
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 (Point | Nonsense) of variant at Exon 6.
Individual Case Information :
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c.721C>A
p.(Gln241Lys) (195)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
721
Variant Effect:
Missense
Location:
Exon(6)
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.722A>G
p.(Gln241Arg) (195)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
722
Variant Effect:
Missense
Location:
Exon(6)
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.722delA
p.(Gln241Argfs*4) (195)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
722
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 (Deletion | Frameshift) of variant at Exon 6.
Individual Case Information :
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c.723G>A
p.(Gln241Gln) (195)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
723
Variant Effect:
Silent
Location:
Exon(6)
CpG:
N
No. of cases reported:
7
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 | Silent) of variant at Exon 6.
Individual Case Information :
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c.723G>C
p.(Gln241His) (195)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
723
Variant Effect:
Missense
Location:
Exon(6)
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.723G>T
p.(Gln241His) (195)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
723
Variant Effect:
Missense
Location:
Exon(6)
CpG:
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show