Search Results: 2 unique variants retrieved
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c.151G>A
p.Gly51Arg (Legacy AA No. 11)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Karimi et al 2012 c.152G>T
p.Gly51Val (Legacy AA No. 11)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
G>T
No. of Patients Reported:
3
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Chafa et al 2009Variant affects FX activation by FVIIa/TF and FIXa/FVIIIa. Legacy cDNA numbering in paper - unknown origin (c.209G>T)