Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.176A>C
p.Glu59Ala (Legacy AA No. 19)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
A>C
No. of Patients Reported:
4
Phenotype:
U
Allele Count *:
2
Allele Number *:
282886
Allele Frequency *:
0.000007
References and Comments:
Pinotti et al 2002Variant interferes with FX activation (particularly extrinsic) and affects FX secretion and stability. Legacy cDNA numbering in paper - Leytus et al 1986 (c.201A>C)