Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.307G>C
p.Asp103His (Legacy AA No. 63)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
G>C
No. of Patients Reported:
3
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Karimi et al 2008Variant disrupts FX PTM (beta-hydroxylation) at residue 103, leading to loss of FX function.