Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1021G>A
p.Glu341Lys (Legacy AA No. 323)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
6
Phenotype: 
I
Allele Count *: 
4
Allele Number *: 
251454
Allele Frequency *: 
0.000016