Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.460G>A
p.Gly154Arg (Legacy AA No. 114)
Variant Type:
Point
Domain:
EGF-2
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
I
Allele Count *:
40
Allele Number *:
282430
Allele Frequency *:
0.000142
References and Comments:
Wallmark et al 1991; Herrmann et al 2006(FX Ӧckerӧ).