Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
NA
p.Gln1598* (Legacy AA No. 1570)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 14
Variant Effect:
Nonsense
Codon Change:
NA
No. of Patients Reported:
2
Phenotype:
Asymptomatic
Association:
FV Deficiency
Allele Count *:
1
Allele Number *:
250608
Allele Frequency *:
0.000004
References and Comments:
Brodard et al 2020NA