Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.631A>C
p.Thr211Pro (Legacy AA No. 171)
Variant Type:
Point
Domain:
Activation peptide
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
A>C
No. of Patients Reported:
5
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Ding et al 2013Variant prevents O-linked glycosylation of residue 211, disrupting FX activation by intrinsic Xase.