Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.113T>C
p.Val38Ala (Legacy AA No. 20)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-