Search Results: 6 unique variants retrieved
c.1287dup
p.(Ser430*) (384)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1287
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 (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information :
Show
c.1288A>T
p.(Ser430Cys) (384)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1288
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.1289G>A
p.(Ser430Asn) (384)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1289
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.1289G>C
p.(Ser430Thr) (384)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1289
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.1290C>A
p.(Ser430Arg) (384)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1290
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.1290C>G
p.(Ser430Arg) (384)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1290
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