Search Results: 6 unique variants retrieved
c.1135C>T
p.(Arg379*) (333)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1135
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
75
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.1135C>G
p.(Arg379Gly) (333)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1135
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
5
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1135C>A
p.(Arg379Gly) (333)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1135
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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.1136G>A
p.(Arg379Gln) (333)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1136
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
80
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1136G>T
p.(Arg379Leu) (333)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1136
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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.1136G>C
p.(Arg379Pro) (333)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1136
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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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