Search Results: 5 unique variants retrieved
c.1076T>C
p.(Val359Ala) (313)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1076
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 :
Show
c.1076T>A
p.(Val359Asp) (313)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1076
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 :
Show
c.1076T>G
p.(Val359Gly) (313)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1076
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1077C>A
p.(Val359Val) (313)
Variant Type:
Polymorphism
Domain:
Serine Protease
cDNA number:
1077
Variant Effect:
Silent
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 (Polymorphism | Silent) of variant at Exon 8.
Individual Case Information :
Show
c.1077_1078delCT
p.(Val359Valfs*14) (313)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1077
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
2
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 :
Show