Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.516T>G
p.Cys172Trp (Legacy AA No. 132)
Variant Type:
Point
Domain:
Linker
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
T>G
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
1
Allele Number *:
247652
Allele Frequency *:
0.000004
References and Comments:
Jayandharan et al 2005Disrupts disulfide bond formation between Cys172-Cys342, destabilizing FX structure.