Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
Undefined cDNA (A12P)
p.Ala12Pro (Legacy AA No. -29)
Variant Type:
Point
Domain:
Pre-pro leader
Location:
Exon 1
Variant Effect:
Missense
Codon Change:
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Liang et al 2013Variant impairs FX secretion.