Search Results: 3 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1102G>A
p.Gly368Arg (Legacy AA No. 350)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
The Gly368Arg mutant is thought not to be secreted as the patient in which the mutation was found shows a parallel defect of both FXI:C and FXI:Ag levels. Quelin et al 2009 c.1103G>C
p.Gly368Ala (Legacy AA No. 350)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
II
Allele Count *: 
1
Allele Number *: 
251366
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Decreases FXI dimerisation. Saunders et al 2009 c.1103G>A
p.Gly368Glu (Legacy AA No. 350)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
I
Allele Count *: 
3
Allele Number *: 
251366
Allele Frequency *: 
0.000012