Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.446G>A
p.Cys149Tyr (Legacy AA No. 109)
Variant Type: 
Point
Domain: 
EGF-2
Location: 
Exon 5
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
References and Comments:
Millar et al 2000Variant disrupts disulfide bond formation, interfering with protein folding and overall structure.