Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.854A>T
p.Lys285Met (Legacy AA No. 245)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
A>T
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Mota et al 2010Legacy cDNA numbering in paper - unknown origin (c.857A>T)