Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.405C>A
p.Asp135Glu (Legacy AA No. 95)
Variant Type:
Point
Domain:
EGF-2
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
C>A
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-