Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6653T>C
p.Leu2218Pro (Legacy AA No. 2190)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 25
Variant Effect:
Missense
Codon Change:
6653T>C
No. of Patients Reported:
1
Phenotype:
Severe
Association:
FV Deficiency
Allele Count *:
2
Allele Number *:
251108
Allele Frequency *:
0.000008
References and Comments:
Chapla et al 2011recurrent epistaxis