Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.214C>T
p.Arg72* (Legacy AA No. 54)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
C>T
Variant Effect: 
Nonsense
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251432
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Castaman et al 2005Structural Interpretation:
Structural analysis cannot be performed on this (Point | Nonsense) variant. c.215G>C
p.Arg72Pro (Legacy AA No. 54)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-