Search Results: 3 unique variants retrieved
c.1254delA
p.(Val419Trpfs*7) (373)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1254
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 (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.1256T>A
p.(Val419Glu) (373)
Variant Type:
Point
Domain:
Serine protease
cDNA number:
1256
Variant Effect:
Missense
Location:
Exon(8)
CpG:
No. of cases reported:
2
No. of bases:
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1256T>G
p.(Val419Gly) (373)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1256
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 :
Show