Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.484C>T
p.Arg162Cys (Legacy AA No. 144)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
C>T
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
10
Allele Number *:
251330
Allele Frequency *:
0.000040