Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.599G>A
p.Cys200Tyr (Legacy AA No. 182)
Variant Type:
Point
Domain:
Apple 3
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
10
Allele Number *:
251312
Allele Frequency *:
0.000040
Variant Comments & Reference:
Bolton-Maggs et al 2003 (Abstract), Duncan et al 2008 c.599G>C
p.Cys200Ser (Legacy AA No. 182)
Variant Type:
Point
Domain:
Apple 3
Codon Change:
G>C
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-