Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.751C>T
p.Gln251* (Legacy AA No. 233)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
C>T
Variant Effect: 
Nonsense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251356
Allele Frequency *: 
0.000004