Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.137G>T
p.Cys46Phe (Legacy AA No. 28)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
I
Allele Count *: 
3
Allele Number *: 
251460
Allele Frequency *: 
0.000012