Search Results: 3 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.755G>A
p.Arg252Lys (Legacy AA No. 234)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Replacement of hydrophilic basic Arg withhydrophilic basic Lys occurs in the last nucleotide of exon 7 and likely disrupts normal mRNA splicing. Duncan et al 2008 c.755G>T
p.Arg252Ile (Legacy AA No. 234)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251340
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Bolton-Maggs et al 2003 (Abstract) c.756A>T
p.Arg252Ser (Legacy AA No. 234)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
A>T
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251152
Allele Frequency *: 
0.000004