Search Results: 6 unique variants retrieved
c.1186T>C
p.(Cys396Arg) (350)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1186
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.1187G>T
p.(Cys396Phe) (350)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1187
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
c.1187G>C
p.(Cys396Ser) (350)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1187
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
5
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1187G>A
p.(Cys396Tyr) (350)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1187
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
11
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1188T>A
p.(Cys396*) (350)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1188
Variant Effect:
Nonsense
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 (Point | Nonsense) of variant at Exon 8.
Individual Case Information :
Show
c.1188T>G
p.(Cys396Trp) (350)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1188
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