Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.166G>A
p.Glu56Lys (Legacy AA No. 16)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
2
Allele Number *:
251490
Allele Frequency *:
0.000008