Search Results: 2 unique variants retrieved
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c.1096C>T
p.Arg366Cys (Legacy AA No. 326)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
1
Allele Number *:
249940
Allele Frequency *:
0.000004
References and Comments:
Reddy et al 1989Variant likely disrupts structure of catalytic region e.g. by disrupting disulfide bond formation, diminishing FX activity (FX San Antonio). Legacy cDNA numbering in paper - Leytus et al 1986 (c.1121C>T)
c.1097G>A
p.Arg366His (Legacy AA No. 326)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
9
Allele Number *:
281278
Allele Frequency *:
0.000032