Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.943G>A
p.Glu315Lys (Legacy AA No. 297)
Variant Type:
Point
Domain:
Apple 4
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
11
Phenotype:
I
Allele Count *:
8
Allele Number *:
282756
Allele Frequency *:
0.000028
Variant Comments & Reference:
Expression of Glu315Lys in BHK cells revealed impaired secretion (4.5% of wild-type FXI) despite the presence of 70% of wild-type FXI antigen in cell lysate, which was shown to be a dimer by western blot analysis. Zucker et al 2007, Tiscia et al 2017 c.943G>T
p.Glu315* (Legacy AA No. 297)
Variant Type:
Point
Domain:
Apple 4
Codon Change:
G>T
Variant Effect:
Nonsense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-