Search Results: 2 unique variants retrieved
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Undefined cDNA (E72D)
p.Glu72Asp (Legacy AA No. 32)
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:
Girolami et al 2019 c.214G>C
p.Glu72Gln (Legacy AA No. 32)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
G>C
No. of Patients Reported:
0
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Zama et al 1999Variant prevents completion of standard FX carboxylation, disrupting FX processing, potentially destabilizing the FX mRNA or protein product(FX Tokyo).