Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2232G>C
p.Leu744Phe (Legacy AA No. 716)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2232G>C
No. of Patients Reported:
2
Phenotype:
NA
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Baz et al 2021NA