Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.682C>T
p.Arg228* (Legacy AA No. 210)
Variant Type:
Point
Domain:
Apple 3
Codon Change:
C>T
Variant Effect:
Nonsense
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
4
Allele Number *:
251444
Allele Frequency *:
0.000016