Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5693C>T
p.Thr1898Met (Legacy AA No. 1870)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 18
Variant Effect:
Missense
Codon Change:
5693C>T
No. of Patients Reported:
3
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
7
Allele Number *:
282556
Allele Frequency *:
0.000025
References and Comments:
Delev et al 2009NA