Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.736T>C
p.Cys246Arg (Legacy AA No. 206)
Variant Type:
Point
Domain:
Serine Protease
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Mitchell et al 2019Variant disrupts disulfide bond formation, interfering with FX folding and overall structure