Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6025G>A
p.Gly2009Arg (Legacy AA No. 1981)
Variant Type: 
Point
Domain: 
d5C1
Location: 
Exon 21
Variant Effect: 
Missense
Codon Change: 
6025G>A
No. of Patients Reported: 
5
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA
References and Comments:
Frotscher et al 2012GI bleeding at age 3 weeks and other minor bleeds