Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1036C>T
p.Arg346Cys (Legacy AA No. 306)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
0
Phenotype:
I
Allele Count *:
1
Allele Number *:
250750
Allele Frequency *:
0.000004
References and Comments:
Miyata et al 1998(FX Nagoya I).