Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.973G>T
p.Val325Phe (Legacy AA No. 307)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
3
Phenotype: 
U
Allele Count *: 
2
Allele Number *: 
251386
Allele Frequency *: 
0.000008