Search Results: 2 unique variants retrieved
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Undefined cDNA (E47K)
p.Glu47Lys (Legacy AA No. 7)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Herrmann et al 2006 c.140A>G
p.Glu47Gly (Legacy AA No. 7)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
A>G
No. of Patients Reported:
2
Phenotype:
II
Allele Count *:
2
Allele Number *:
251494
Allele Frequency *:
0.000008
References and Comments:
Rudolph et al 1996Variant has no effect on FX synthesis or secretion but disrupts Gla domain interactions(FX St Louis II). Legacy cDNA numbering in paper - unknown origin (c.1200A>G)