Search Results: 2 unique variants retrieved
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c.517G>A
p.Gly173Arg (Legacy AA No. 133)
Variant Type:
Point
Domain:
Linker
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Jayandharan et al 2005Variant may interfere with neighbouring disulfide bonds (esp. Cys172-Cys342), disrupting FX structure and function.
c.517G>T
p.Gly173Trp (Legacy AA No. 133)
Variant Type:
Point
Domain:
Linker
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
G>T
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Corsini et al 2015Variant disrupts structure and function of FX protein.