Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.863T>C
p.Val288Ala (Legacy AA No. 248)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Mota et al 2010; Shetty, Mota & Ghosh 2010Variant has limited effect of native FX interactions but likely to disrupt FX function due to localisation in catalytic site. Legacy cDNA numbering in paper - unknown origin (c.866T>C)