Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4210C>T
p.Pro1404Ser (Legacy AA No. 1376)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4210C>T
No. of Patients Reported:
2
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
20912
Allele Number *:
282390
Allele Frequency *:
0.074054
References and Comments:
Schrijver et al 2002Bumblical bleeding at birth; gingival bleeding; CNS haemorrhage; splice error and chain termination upstream