Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1060G>A
p.Gly354Arg (Legacy AA No. 336)
Variant Type:
Point
Domain:
Apple 4
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
3
Allele Number *:
251410
Allele Frequency *:
0.000012