Search Results: 3 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
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.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.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