Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.268T>C
p.Cys90Arg (Legacy AA No. 50)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
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, disrupting FX structure.