Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1073C>T
p.Thr358Met (Legacy AA No. 318)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
7
Phenotype:
II
Allele Count *:
4
Allele Number *:
250316
Allele Frequency *:
0.000016
References and Comments:
De Stefano et al 1988; Odom et al 1994; Millar et al 2000Variant disrupts FX catalytic activity without interfering with FX structure (FX Roma). Legacy cDNA numbering in paper - Leytus et al 1986 (c.1098C>T)