Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.910G>A
p.Glu304Lys (Legacy AA No. 264)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
1
Allele Number *:
251188
Allele Frequency *:
0.000004
References and Comments:
Millar et al 2000Substitution of negatively charged residue for positively charged residue.