Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1619C>T
p.Ala540Val* (Legacy AA No. 512)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 10
Variant Effect:
Missense
Codon Change:
1619C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
thrombosis
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
Pezeshkpoor et al 2016NA