Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.160G>A
p.Glu54Lys (Legacy AA No. 14)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
16
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Watzke et al 1990; Millar et al 2000; van Dievoet et al 2019Variant interferes with FX activation by FVIIa/TF and FIXa/FVIIIa (FX Vorarlberg).
c.161A>G
p.Glu54Gly (Legacy AA No. 14)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
A>G
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
2
Allele Number *:
251490
Allele Frequency *:
0.000008
References and Comments:
Kim, Thompson and James 1995; Herrmann et al 2006Variant alters FX binding affinity for Ca2+ and disrupts standard light chain interactions (FX Ketchican).