Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.449C>T
p.Thr150Met (Legacy AA No. 132)
Variant Type: 
Point
Domain: 
Apple 2
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
6
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251286
Allele Frequency *: 
0.000004