Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4867T>G
p.Tyr1623Asp (Legacy AA No. 1595)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 14
Variant Effect:
Missense
Codon Change:
4867T>G
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Duckers et al 2010very mild epistaxis and gum bleeding; occasional menses