Search Results: 2 unique variants retrieved
c.946A>T
p.(Ile316Phe) (270)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
946
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
10
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.947T>C
p.(Ile316Thr) (270)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
947
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show