Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.802C>T
p.Arg268Cys (Legacy AA No. 250)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
5
Phenotype: 
U
Allele Count *: 
21
Allele Number *: 
282758
Allele Frequency *: 
0.000074
Variant Comments & Reference:
Bolton-Maggs et al 2003 (Abstract), Esteban et al 2017 c.803G>A
p.Arg268His (Legacy AA No. 250)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
U
Allele Count *: 
7
Allele Number *: 
282734
Allele Frequency *: 
0.000025