Search Results: 2 unique variants retrieved
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c.169T>C
p.Cys57Arg (Legacy AA No. 17)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Borhany et al 2018Variant disrupts disulfide bond formation (Cys57-Cys62), disrupting FX structure.
c.170G>T
p.Cys57Phe (Legacy AA No. 17)
Variant Type:
Point
Domain:
Gla domain
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
G>T
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Mitchell et al 2019Variant disrupts disulfide bond formation (Cys57-Cys62), disrupting FX structure.