Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.692T>G
p.Met231Arg (Legacy AA No. 203)
Variant Type: 
Point
Domain: 
d5A1
Location: 
Exon 5
Variant Effect: 
Missense
Codon Change: 
692T>G
No. of Patients Reported: 
2
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA
References and Comments:
Chapla et al 2011intracranial bleeding immediately after birth, umbilical stump bleeding