Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1667G>A
p.Ser556Asn (Legacy AA No. 528)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 11
Variant Effect:
Missense
Codon Change:
1667G>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
FV Deficiency
Allele Count *:
2
Allele Number *:
251424
Allele Frequency *:
0.000008
References and Comments:
Maharaj et al 2021NA