Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2450A>C
p.Asn817Thr (Legacy AA No. 789)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2450A>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
thrombosis
Allele Count *:
18226
Allele Number *:
282618
Allele Frequency *:
0.06449
References and Comments:
Kostka et al 2000NA