Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.316C>T
p.Gln106* (Legacy AA No. 88)
Variant Type: 
Point
Domain: 
Linker
Codon Change: 
C>T
Variant Effect: 
Nonsense
No. of Patients Reported: 
5
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251302
Allele Frequency *: 
0.000004