Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
Unspecified (C136R)
p.Cys136Arg (Legacy AA No. 118)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Tiscia et al 2017 c.408C>A
p.Cys136* (Legacy AA No. 118)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
C>A
Variant Effect:
Nonsense
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
3
Allele Number *:
251304
Allele Frequency *:
0.000012