Search Results: 3 unique variants retrieved
c.709C>T
p.(Gln237*) (191)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
709
Variant Effect:
Nonsense
Location:
Exon(6)
CpG:
N
No. of cases reported:
5
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.709C>A
p.(Gln237Lys) (191)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
709
Variant Effect:
Missense
Location:
Exon(6)
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.711A>G
p.(Gln237Gln) (191)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
711
Variant Effect:
Silent
Location:
Exon(6)
CpG:
N
No. of cases reported:
2
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 :
Show