Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
Undefined cDNA (E91K)
p.Glu91Lys (Legacy AA No. 51)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
No. of Patients Reported:
15
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Al-Hilali et al 2007Substitution of acidic residue by basic suggests variant disrupts structure and thus function of FX (FX Riyadh).