Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.353G>A
p.Gly118Asp (Legacy AA No. 78)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Peyvandi et al 2002; Togashi et al 2020Variant disrupts folding of EGF-1 domain, disrupting overall FX protein structure.