Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5900T>A
p.Met1967Lys (Legacy AA No. 1939)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 21
Variant Effect:
Missense
Codon Change:
5900T>A
No. of Patients Reported:
2
Phenotype:
Mild
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Delev et al 2009NA