Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.783G>C
p.Glu261Asp (Legacy AA No. 243)
Variant Type:
Point
Domain:
Apple 3
Codon Change:
G>C
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
15
Allele Number *:
251328
Allele Frequency *:
0.000060