Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1498T>G
p.Cys500Gly (Legacy AA No. 472)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 10
Variant Effect:
Missense
Codon Change:
1498T>G
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Montefusco et al 2003severe bleeding episodes after dental extraction and minor trauma