Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.424G>A
p.Glu142Lys (Legacy AA No. 102)
Variant Type:
Point
Domain:
EGF-2
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
12
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Watzke et al 1990; Marchetti et al 1995; Herrmann et al 2006(FX Vorarlberg). Legacy cDNA numbering in Marchetti paper - Leytus et al 1986 (c.449G>A)