Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3409C>T
p.Gln1137* (Legacy AA No. 1109)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Nonsense
Codon Change:
3409C>T
No. of Patients Reported:
2
Phenotype:
NA
Association:
FV Deficiency
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Huang et al 2010NA