Search Results: 2 unique variants retrieved
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Undefined cDNA (A275T)
p.Ala275Thr (Legacy AA No. 235)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Liang et al 2013 c.824C>T
p.Ala275Val (Legacy AA No. 235)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Sun et al 2016Variant may disrupt FX folding and activity due to its proximity to the catalytic triad. Variant possibly interferes with FX translocation from ER to Golgi.