Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.566C>T
p.Pro189Leu (Legacy AA No. 161)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
566C>T
No. of Patients Reported:
1
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
29
Allele Number *:
282760
Allele Frequency *:
0.000103
References and Comments:
Al-Numair et al 2019mild menorrhagia